Canonical Allele Identifier: CA1431475798

Gene: TFRC

Linked Data

• dbSNP Id: rs1718431627
• gnomAD v4: 3-196073829-TAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.196073832_196073834del , CM000665.2:g.196073832_196073834del	GRCh38
NC_000003.11:g.195800703_195800705del , CM000665.1:g.195800703_195800705del	GRCh37
NC_000003.10:g.197285100_197285102del	NCBI36
NG_046395.1:g.13330_13332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426789.6:n.505+98_505+100del
ENST00000475593.6:n.505+98_505+100del
ENST00000477148.2:n.505+98_505+100del
ENST00000698274.1:c.434+98_434+100del	ENSP00000513645.1:n.434+98_434+100del
ENST00000698275.1:n.505+98_505+100del
ENST00000698280.1:c.434+98_434+100del	ENSP00000513646.1:n.434+98_434+100del
ENST00000698281.1:c.434+98_434+100del	ENSP00000513647.1:n.434+98_434+100del
ENST00000698282.1:c.434+98_434+100del	ENSP00000513648.1:n.434+98_434+100del
ENST00000698283.1:c.434+98_434+100del	ENSP00000513649.1:n.434+98_434+100del
ENST00000698284.1:n.505+98_505+100del
ENST00000698285.1:c.-412-1680_-412-1678del	ENSP00000513650.1:n.-412-1680_-412-1678del
ENST00000698286.1:c.-412-1680_-412-1678del	ENSP00000513651.1:n.-412-1680_-412-1678del
ENST00000698287.1:n.717+98_717+100del
ENST00000698288.1:c.434+98_434+100del	ENSP00000513652.1:n.434+98_434+100del
ENST00000698289.1:n.505+98_505+100del
ENST00000698290.1:c.434+98_434+100del	ENSP00000513653.1:n.434+98_434+100del
ENST00000698291.1:c.434+98_434+100del	ENSP00000513654.1:n.434+98_434+100del
ENST00000698292.1:n.542+98_542+100del
ENST00000698293.1:n.568+98_568+100del
ENST00000698294.1:c.26+3232_26+3234del
ENST00000698295.1:c.-309-1680_-309-1678del	ENSP00000513656.1:n.-309-1680_-309-1678del
ENST00000360110.9:c.434+98_434+100del MANE Select	ENSP00000353224.4:n.434+98_434+100del
ENST00000360110.8:c.434+98_434+100del	ENSP00000353224.4:n.434+98_434+100del
ENST00000392396.7:c.434+98_434+100del	ENSP00000376197.3:n.434+98_434+100del
ENST00000420415.5:c.191+98_191+100del	ENSP00000390133.1:n.191+98_191+100del
ENST00000421258.1:c.238+1327_238+1329del	ENSP00000402839.1:n.238+1327_238+1329del
NM_001128148.1:c.434+98_434+100del	NP_001121620.1:n.434+98_434+100del
NM_001128148.2:c.434+98_434+100del	NP_001121620.1:n.434+98_434+100del
NM_001313965.1:c.191+98_191+100del	NP_001300894.1:n.191+98_191+100del
NM_001313966.1:c.-412-1680_-412-1678del	NP_001300895.1:n.-412-1680_-412-1678del
NM_003234.2:c.434+98_434+100del	NP_003225.2:n.434+98_434+100del
NM_003234.3:c.434+98_434+100del	NP_003225.2:n.434+98_434+100del
XM_011513112.1:c.434+98_434+100del	XP_011511414.1:n.434+98_434+100del
XM_024453731.1:c.434+98_434+100del	XP_024309499.1:n.434+98_434+100del
XM_024453732.1:c.434+98_434+100del	XP_024309500.1:n.434+98_434+100del
XR_002959575.1:n.538+98_538+100del
XR_002959576.1:n.538+98_538+100del
XR_002959577.1:n.538+98_538+100del
XR_002959578.1:n.538+98_538+100del
NM_001128148.3:c.434+98_434+100del MANE Select	NP_001121620.1:n.434+98_434+100del
NM_001313965.2:c.191+98_191+100del	NP_001300894.1:n.191+98_191+100del
NM_001313966.2:c.-412-1680_-412-1678del	NP_001300895.1:n.-412-1680_-412-1678del
NM_003234.4:c.434+98_434+100del	NP_003225.2:n.434+98_434+100del