Canonical Allele Identifier: CA2729203798

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140543396

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875543_102875544insCAGCTCTGTTTAG , CM000675.2:g.102875543_102875544insCAGCTCTGTTTAG	GRCh38
NC_000013.10:g.103527893_103527894insCAGCTCTGTTTAG , CM000675.1:g.103527893_103527894insCAGCTCTGTTTAG	GRCh37
NC_000013.9:g.102325894_102325895insCAGCTCTGTTTAG	NCBI36
NG_007146.1:g.34720_34721insCAGCTCTGTTTAG , LRG_464:g.34720_34721insCAGCTCTGTTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4302_4303insCAGCTCTGTTTAG (ERCC5)
ENST00000682869.1:n.3850_3851insCAGCTCTGTTTAG (ERCC5)
ENST00000683246.1:n.4838_4839insCAGCTCTGTTTAG (ERCC5)
ENST00000683642.1:n.3431_3432insCAGCTCTGTTTAG (ERCC5)
ENST00000639132.1:c.3876_3877insCAGCTCTGTTTAG (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1293GlnfsTer16
ENST00000639435.1:c.4563_4564insCAGCTCTGTTTAG (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1522GlnfsTer16
ENST00000651002.1:c.*2962_*2963insCAGCTCTGTTTAG (ERCC5)	ENSP00000498809.1:n.*2962_*2963insCAGCTCTGTTTAG
ENST00000651055.1:n.3328_3329insCAGCTCTGTTTAG (ERCC5)
ENST00000651281.1:n.3569_3570insCAGCTCTGTTTAG (ERCC5)
ENST00000651387.1:n.2685_2686insCAGCTCTGTTTAG (ERCC5)
ENST00000651470.1:c.*373_*374insCAGCTCTGTTTAG (ERCC5)	ENSP00000498701.1:n.*373_*374insCAGCTCTGTTTAG
ENST00000652225.2:c.3201_3202insCAGCTCTGTTTAG (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1068GlnfsTer16
ENST00000652613.1:c.2697_2698insCAGCTCTGTTTAG (ERCC5)	ENSP00000498357.1:p.Ser900GlnfsTer16
ENST00000355739.8:c.3201_3202insCAGCTCTGTTTAG (ERCC5)	ENSP00000347978.4:p.Ser1068GlnfsTer16
ENST00000375954.1:c.900_901insCAGCTCTGTTTAG (ERCC5)	ENSP00000365121.1:p.Ser301GlnfsTer16
ENST00000472247.1:n.361_362insCAGCTCTGTTTAG (ERCC5)
ENST00000610537.4:c.3198_3199insCAGCTCTGTTTAG (ERCC5)	ENSP00000478667.1:p.Ser1067GlnfsTer16
NM_000123.3:c.3201_3202insCAGCTCTGTTTAG , LRG_464t1:c.3201_3202insCAGCTCTGTTTAG (ERCC5)	NP_000114.2:p.Ser1068GlnfsTer16
NM_001204425.1:c.4563_4564insCAGCTCTGTTTAG (BIVM-ERCC5)	NP_001191354.1:p.Ser1522GlnfsTer16
NM_000123.4:c.3201_3202insCAGCTCTGTTTAG (ERCC5) MANE Select	NP_000114.3:p.Ser1068GlnfsTer16
NM_001204425.2:c.4563_4564insCAGCTCTGTTTAG (BIVM-ERCC5)	NP_001191354.2:p.Ser1522GlnfsTer16