Canonical Allele Identifier: CA2573147977

Gene: TCTN1 HVCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110628874del , CM000674.2:g.110628874del	GRCh38
NC_000012.11:g.111066679del , CM000674.1:g.111066679del	GRCh37
NC_000012.10:g.109551062del	NCBI36
NG_030381.1:g.19848del

Transcript Alleles

HGVS	Amino-acid Change
NM_001082538.3:c.580del (TCTN1) MANE Select	NP_001076007.1:p.Ser194ProfsTer27
ENST00000397659.9:c.580del (TCTN1) MANE Select	ENSP00000380779.4:p.Ser194ProfsTer27
NM_001082537.2:c.580del (TCTN1)	NP_001076006.1:p.Ser194ProfsTer27
NM_001082537.3:c.580del (TCTN1)	NP_001076006.1:p.Ser194ProfsTer27
NM_001082538.2:c.580del (TCTN1)	NP_001076007.1:p.Ser194ProfsTer27
NM_001173975.1:c.412del (TCTN1)	NP_001167446.1:p.Ser138ProfsTer27
NM_001173975.2:c.412del (TCTN1)	NP_001167446.1:p.Ser138ProfsTer27
NM_001173975.3:c.412del (TCTN1)	NP_001167446.1:p.Ser138ProfsTer27
NM_001173976.1:c.400del (TCTN1)	NP_001167447.1:p.Ser134ProfsTer27
NM_001173976.2:c.400del (TCTN1)	NP_001167447.1:p.Ser134ProfsTer27
NM_001319680.1:c.580del (TCTN1)	NP_001306609.1:p.Ser194ProfsTer27
NM_001319680.2:c.580del (TCTN1)	NP_001306609.1:p.Ser194ProfsTer27
NM_001319681.1:c.46del (TCTN1)	NP_001306610.1:p.Ser16ProfsTer27
NM_001319681.2:c.46del (TCTN1)	NP_001306610.1:p.Ser16ProfsTer27
NM_001319682.1:c.412del (TCTN1)	NP_001306611.1:p.Ser138ProfsTer16
NM_001319682.2:c.412del (TCTN1)	NP_001306611.1:p.Ser138ProfsTer16
NM_001319682.3:c.412del (TCTN1)	NP_001306611.1:p.Ser138ProfsTer16
NM_024549.5:c.580del (TCTN1)	NP_078825.2:p.Ser194ProfsTer27
NM_024549.6:c.580del (TCTN1)	NP_078825.2:p.Ser194ProfsTer27
NR_135088.1:n.1092del (TCTN1)
NR_135088.2:n.990del (TCTN1)
ENST00000377654.4:c.400del (TCTN1)	ENSP00000366882.4:p.Ser134ProfsTer27
ENST00000377654.5:c.580del (TCTN1)	ENSP00000366882.5:p.Ser194ProfsTer27
ENST00000397655.7:c.580del (TCTN1)	ENSP00000380775.3:p.Ser194ProfsTer27
ENST00000397656.8:c.*213del (TCTN1)	ENSP00000380776.4:n.*213del
ENST00000397659.8:c.580del (TCTN1)	ENSP00000380779.4:p.Ser194ProfsTer27
ENST00000464809.5:c.*633del (TCTN1)	ENSP00000435027.1:n.*633del
ENST00000471804.7:c.580del (TCTN1)	ENSP00000473903.2:p.Ser194ProfsTer27
ENST00000478122.6:c.*338del (TCTN1)	ENSP00000474208.1:n.*338del
ENST00000480648.5:c.580del (TCTN1)	ENSP00000437196.1:p.Ser194ProfsTer27
ENST00000490514.5:c.*404del (TCTN1)	ENSP00000436044.1:n.*404del
ENST00000495659.6:c.*338del (TCTN1)	ENSP00000436673.2:n.*338del
ENST00000546643.1:c.*192del (TCTN1)	ENSP00000473743.1:n.*192del
ENST00000547461.3:c.580del (TCTN1)	ENSP00000448188.3:p.Ser194ProfsTer27
ENST00000547868.1:n.415del (TCTN1)
ENST00000548312.5:c.757-696del (HVCN1)	ENSP00000449601.1:n.757-696del
ENST00000549123.6:c.580del (TCTN1)	ENSP00000450154.2:p.Ser194ProfsTer27
ENST00000550703.6:c.580del (TCTN1)	ENSP00000473789.1:p.Ser194ProfsTer16
ENST00000551555.2:n.360del (TCTN1)
ENST00000551555.3:n.603del (TCTN1)
ENST00000551590.5:c.580del (TCTN1)	ENSP00000448735.1:p.Ser194ProfsTer27
ENST00000552038.6:n.650del (TCTN1)
ENST00000552318.5:c.*162del (TCTN1)	ENSP00000474343.1:n.*162del
ENST00000614115.4:c.580del (TCTN1)	ENSP00000484255.1:p.Ser194ProfsTer27
ENST00000614115.5:c.580del (TCTN1)	ENSP00000484255.2:p.Ser194ProfsTer27
ENST00000679401.1:c.520del (TCTN1)	ENSP00000506277.1:p.Ser174ProfsTer16
ENST00000679473.1:c.*213del (TCTN1)	ENSP00000504983.1:n.*213del
ENST00000679617.1:c.*192del (TCTN1)	ENSP00000506626.1:n.*192del
ENST00000679713.1:c.*213del (TCTN1)	ENSP00000504975.1:n.*213del
ENST00000680068.1:c.*404del (TCTN1)	ENSP00000506300.1:n.*404del
ENST00000680203.1:c.*386del (TCTN1)	ENSP00000505195.1:n.*386del
ENST00000680445.1:c.580del (TCTN1)	ENSP00000505462.1:p.Ser194ProfsTer27
ENST00000680512.1:c.*192del (TCTN1)	ENSP00000505935.1:n.*192del
ENST00000680548.1:c.*267del (TCTN1)	ENSP00000505310.1:n.*267del
ENST00000680571.1:n.799del (TCTN1)
ENST00000681395.1:c.*192del (TCTN1)	ENSP00000505886.1:n.*192del
ENST00000681437.1:c.*183del (TCTN1)	ENSP00000505004.1:n.*183del
ENST00000681604.1:c.*404del (TCTN1)	ENSP00000505920.1:n.*404del
ENST00000681703.1:n.1452del (TCTN1)
ENST00000681740.1:n.799del (TCTN1)
ENST00000681807.1:c.*404del (TCTN1)	ENSP00000505236.1:n.*404del
ENST00000681851.1:c.580del (TCTN1)	ENSP00000505956.1:p.Ser194ProfsTer27
XM_005253934.2:c.580del (TCTN1)	XP_005253991.1:p.Ser194ProfsTer27
XM_005253934.4:c.580del (TCTN1)	XP_005253991.1:p.Ser194ProfsTer27
XM_005253935.2:c.580del (TCTN1)	XP_005253992.1:p.Ser194ProfsTer27
XM_005253935.4:c.580del (TCTN1)	XP_005253992.1:p.Ser194ProfsTer27
XM_005253936.2:c.46del (TCTN1)	XP_005253993.1:p.Ser16ProfsTer27
XM_006719594.1:c.412del (TCTN1)	XP_006719657.1:p.Ser138ProfsTer27
XM_006719594.3:c.412del (TCTN1)	XP_006719657.1:p.Ser138ProfsTer27
XM_006719595.1:c.46del (TCTN1)	XP_006719658.1:p.Ser16ProfsTer27
XM_006719595.3:c.46del (TCTN1)	XP_006719658.1:p.Ser16ProfsTer27
XM_006719596.1:c.46del (TCTN1)	XP_006719659.1:p.Ser16ProfsTer27
XM_006719596.3:c.46del (TCTN1)	XP_006719659.1:p.Ser16ProfsTer27
XM_006719597.2:c.46del (TCTN1)	XP_006719660.1:p.Ser16ProfsTer27
XM_006719597.4:c.46del (TCTN1)	XP_006719660.1:p.Ser16ProfsTer27
XM_006719598.1:c.46del (TCTN1)	XP_006719661.1:p.Ser16ProfsTer27
XM_006719598.3:c.46del (TCTN1)	XP_006719661.1:p.Ser16ProfsTer27
XM_006719599.1:c.46del (TCTN1)	XP_006719662.1:p.Ser16ProfsTer27
XM_006719599.3:c.46del (TCTN1)	XP_006719662.1:p.Ser16ProfsTer27
XM_006719600.1:c.46del (TCTN1)	XP_006719663.1:p.Ser16ProfsTer27
XM_006719600.3:c.46del (TCTN1)	XP_006719663.1:p.Ser16ProfsTer27
XM_011538733.1:c.580del (TCTN1)	XP_011537035.1:p.Ser194ProfsTer27
XM_011538733.3:c.580del (TCTN1)	XP_011537035.1:p.Ser194ProfsTer27
XM_011538734.1:c.520del (TCTN1)	XP_011537036.1:p.Ser174ProfsTer27
XM_011538734.3:c.520del (TCTN1)	XP_011537036.1:p.Ser174ProfsTer27
XM_011538735.1:c.580del (TCTN1)	XP_011537037.1:p.Ser194ProfsTer27
XM_011538735.2:c.580del (TCTN1)	XP_011537037.1:p.Ser194ProfsTer27
XM_011538736.1:c.580del (TCTN1)	XP_011537038.1:p.Ser194ProfsTer27
XM_011538737.1:c.580del (TCTN1)	XP_011537039.1:p.Ser194ProfsTer27
XM_011538737.3:c.580del (TCTN1)	XP_011537039.1:p.Ser194ProfsTer27
XM_011538738.1:c.580del (TCTN1)	XP_011537040.1:p.Ser194ProfsTer27
XM_011538738.3:c.580del (TCTN1)	XP_011537040.1:p.Ser194ProfsTer27
XM_011538739.1:c.580del (TCTN1)	XP_011537041.1:p.Ser194ProfsTer27
XM_017019964.1:c.412del (TCTN1)	XP_016875453.1:p.Ser138ProfsTer27
XM_017019966.2:c.46del (TCTN1)	XP_016875455.1:p.Ser16ProfsTer27
XM_017019968.2:c.46del (TCTN1)	XP_016875457.1:p.Ser16ProfsTer27
XM_017019969.2:c.46del (TCTN1)	XP_016875458.1:p.Ser16ProfsTer27
XR_243021.2:n.640del (TCTN1)
XR_243021.4:n.634del (TCTN1)
XR_243022.2:n.640del (TCTN1)
XR_243022.4:n.634del (TCTN1)
XR_429116.1:n.640del (TCTN1)
XR_429116.3:n.634del (TCTN1)
XR_944717.1:n.640del (TCTN1)
XR_944717.3:n.634del (TCTN1)