Canonical Allele Identifier: CA2677309980

Gene: MAK TMEM14B

Linked Data

• gnomAD v4: 6-10813729-AAGAAATGAACAGTCACATAATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10813730_10813752del , CM000668.2:g.10813730_10813752del	GRCh38
NC_000006.11:g.10813963_10813985del , CM000668.1:g.10813963_10813985del	GRCh37
NC_000006.10:g.10921949_10921971del	NCBI36
NG_030040.1:g.29804_29826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354489.7:c.279-29_279-7del (MAK) MANE Select	ENSP00000346484.3:n.279-29_279-7del
ENST00000536370.6:c.279-29_279-7del (MAK)	ENSP00000442221.2:n.279-29_279-7del
ENST00000538030.3:c.279-29_279-7del (MAK)	ENSP00000442250.1:n.279-29_279-7del
ENST00000675026.1:c.279-29_279-7del (MAK)	ENSP00000502542.1:n.279-29_279-7del
ENST00000676116.1:c.177-29_177-7del (MAK)	ENSP00000502045.1:n.177-29_177-7del
ENST00000313243.6:c.279-29_279-7del (MAK)	ENSP00000313021.2:n.279-29_279-7del
ENST00000354489.6:c.279-29_279-7del (MAK)	ENSP00000346484.3:n.279-29_279-7del
ENST00000460341.5:c.*121-24294_*121-24272del (TMEM14B)	ENSP00000417095.1:n.*121-24294_*121-24272del
ENST00000463100.5:c.*121-15277_*121-15255del (TMEM14B)	ENSP00000419806.1:n.*121-15277_*121-15255del
ENST00000463448.5:c.*121-37830_*121-37808del (TMEM14B)	ENSP00000419208.1:n.*121-37830_*121-37808del
ENST00000467229.1:c.285-15277_285-15255del (TMEM14B)
ENST00000473166.5:c.*121-12834_*121-12812del (TMEM14B)	ENSP00000417416.1:n.*121-12834_*121-12812del
ENST00000474039.5:c.279-29_279-7del (MAK)	ENSP00000476067.1:n.279-29_279-7del
ENST00000480294.1:c.100+64032_100+64054del	ENSP00000417929.1:n.100+64032_100+64054del
ENST00000489137.1:n.129-12834_129-12812del (TMEM14B)
ENST00000536370.5:c.279-29_279-7del (MAK)	ENSP00000442221.2:n.279-29_279-7del
ENST00000538030.2:c.279-29_279-7del (MAK)	ENSP00000442250.1:n.279-29_279-7del
NM_001242385.1:c.279-29_279-7del (MAK)	NP_001229314.1:n.279-29_279-7del
NM_001242957.1:c.279-29_279-7del (MAK)	NP_001229886.1:n.279-29_279-7del
NM_005906.4:c.279-29_279-7del (MAK)	NP_005897.1:n.279-29_279-7del
XM_011514619.1:c.279-29_279-7del (MAK)	XP_011512921.1:n.279-29_279-7del
XM_011514620.1:c.279-29_279-7del (MAK)	XP_011512922.1:n.279-29_279-7del
XM_011514621.1:c.222-29_222-7del (MAK)	XP_011512923.1:n.222-29_222-7del
XM_011514622.1:c.279-29_279-7del (MAK)	XP_011512924.1:n.279-29_279-7del
XR_926215.1:n.611-29_611-7del (MAK)
XR_926216.1:n.647-29_647-7del (MAK)
XR_926217.1:n.611-29_611-7del (MAK)
XR_926219.1:n.611-29_611-7del (MAK)
XR_926220.1:n.611-29_611-7del (MAK)
XR_926221.1:n.611-29_611-7del (MAK)
NM_001242957.2:c.279-29_279-7del (MAK)	NP_001229886.1:n.279-29_279-7del
NM_005906.5:c.279-29_279-7del (MAK)	NP_005897.1:n.279-29_279-7del
NR_134935.1:n.561-29_561-7del (MAK)
NR_134936.1:n.650-29_650-7del (MAK)
XM_011514619.2:c.279-29_279-7del (MAK)	XP_011512921.1:n.279-29_279-7del
XM_011514620.2:c.279-29_279-7del (MAK)	XP_011512922.1:n.279-29_279-7del
XM_011514621.2:c.222-29_222-7del (MAK)	XP_011512923.1:n.222-29_222-7del
XM_011514622.3:c.279-29_279-7del (MAK)	XP_011512924.1:n.279-29_279-7del
XM_017010863.2:c.279-29_279-7del (MAK)	XP_016866352.1:n.279-29_279-7del
XM_017010864.2:c.279-29_279-7del (MAK)	XP_016866353.1:n.279-29_279-7del
XM_017010865.1:c.222-29_222-7del (MAK)	XP_016866354.1:n.222-29_222-7del
XM_017010866.2:c.279-29_279-7del (MAK)	XP_016866355.1:n.279-29_279-7del
XM_024446443.1:c.-185_-163del (MAK)	XP_024302211.1:n.-185_-163del
XM_024446444.1:c.279-29_279-7del (MAK)	XP_024302212.1:n.279-29_279-7del
XR_001743419.2:n.549-29_549-7del (MAK)
XR_002956283.1:n.549-29_549-7del (MAK)
XR_926215.3:n.549-29_549-7del (MAK)
XR_926220.3:n.549-29_549-7del (MAK)
NM_001242957.3:c.279-29_279-7del (MAK) MANE Select	NP_001229886.1:n.279-29_279-7del
NM_001377262.1:c.177-29_177-7del (MAK)	NP_001364191.1:n.177-29_177-7del
NM_005906.6:c.279-29_279-7del (MAK)	NP_005897.1:n.279-29_279-7del
NR_134935.2:n.545-29_545-7del (MAK)
NR_134936.2:n.706-29_706-7del (MAK)
NM_001242385.2:c.279-29_279-7del (MAK)	NP_001229314.1:n.279-29_279-7del