Canonical Allele Identifier: CA2839260947

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835079_134835080insAG , CM000671.2:g.134835079_134835080insAG	GRCh38
NC_000009.11:g.137726925_137726926insAG , CM000671.1:g.137726925_137726926insAG	GRCh37
NC_000009.10:g.136866746_136866747insAG	NCBI36
NG_008030.1:g.198274_198275insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5245_5246insAG	ENSP00000360885.4:p.Ser1749Ter
ENST00000371817.8:c.5245_5246insAG MANE Select	ENSP00000360882.3:p.Ser1749Ter
ENST00000371817.7:c.5245_5246insAG	ENSP00000360882.3:p.Ser1749Ter
ENST00000371820.3:c.503_504insAG
ENST00000618395.4:c.5245_5246insAG	ENSP00000481360.1:p.Ser1749Ter
NM_000093.4:c.5245_5246insAG	NP_000084.3:p.Ser1749Ter
NM_001278074.1:c.5245_5246insAG	NP_001265003.1:p.Ser1749Ter
NR_103451.2:n.71-14871_71-14870insCT
NM_000093.5:c.5245_5246insAG MANE Select	NP_000084.3:p.Ser1749Ter