Canonical Allele Identifier: CA1883393009

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835112_134835115delinsTACG , CM000671.2:g.134835112_134835115delinsTACG	GRCh38
NC_000009.11:g.137726958_137726961delinsTACG , CM000671.1:g.137726958_137726961delinsTACG	GRCh37
NC_000009.10:g.136866779_136866782delinsTACG	NCBI36
NG_008030.1:g.198307_198310delinsTACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5278_5281delinsTACG	ENSP00000360885.4:p.Tyr1760=
ENST00000371817.8:c.5278_5281delinsTACG MANE Select	ENSP00000360882.3:p.Tyr1760=
ENST00000371817.7:c.5278_5281delinsTACG	ENSP00000360882.3:p.Tyr1760=
ENST00000371820.3:c.536_539delinsTACG
ENST00000618395.4:c.5278_5281delinsTACG	ENSP00000481360.1:p.Tyr1760=
NM_000093.4:c.5278_5281delinsTACG	NP_000084.3:p.Tyr1760=
NM_001278074.1:c.5278_5281delinsTACG	NP_001265003.1:p.Tyr1760=
NR_103451.2:n.71-14906_71-14903delinsCGTA
NM_000093.5:c.5278_5281delinsTACG MANE Select	NP_000084.3:p.Tyr1760=