Canonical Allele Identifier: CA1883393021

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835131_134835132delinsTC , CM000671.2:g.134835131_134835132delinsTC	GRCh38
NC_000009.11:g.137726977_137726978delinsTC , CM000671.1:g.137726977_137726978delinsTC	GRCh37
NC_000009.10:g.136866798_136866799delinsTC	NCBI36
NG_008030.1:g.198326_198327delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5297_5298delinsTC	ENSP00000360885.4:p.Phe1766=
ENST00000371817.8:c.5297_5298delinsTC MANE Select	ENSP00000360882.3:p.Phe1766=
ENST00000371817.7:c.5297_5298delinsTC	ENSP00000360882.3:p.Phe1766=
ENST00000371820.3:c.555_556delinsTC
ENST00000618395.4:c.5297_5298delinsTC	ENSP00000481360.1:p.Phe1766=
NM_000093.4:c.5297_5298delinsTC	NP_000084.3:p.Phe1766=
NM_001278074.1:c.5297_5298delinsTC	NP_001265003.1:p.Phe1766=
NR_103451.2:n.71-14923_71-14922delinsGA
NM_000093.5:c.5297_5298delinsTC MANE Select	NP_000084.3:p.Phe1766=