Canonical Allele Identifier: CA1883393114

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835272_134835273delinsCG , CM000671.2:g.134835272_134835273delinsCG	GRCh38
NC_000009.11:g.137727118_137727119delinsCG , CM000671.1:g.137727118_137727119delinsCG	GRCh37
NC_000009.10:g.136866939_136866940delinsCG	NCBI36
NG_008030.1:g.198467_198468delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+68_5370+69delinsCG	ENSP00000360885.4:n.5370+68_5370+69delinsCG
ENST00000371817.8:c.5370+68_5370+69delinsCG MANE Select	ENSP00000360882.3:n.5370+68_5370+69delinsCG
ENST00000371817.7:c.5370+68_5370+69delinsCG	ENSP00000360882.3:n.5370+68_5370+69delinsCG
ENST00000618395.4:c.5370+68_5370+69delinsCG	ENSP00000481360.1:n.5370+68_5370+69delinsCG
NM_000093.4:c.5370+68_5370+69delinsCG	NP_000084.3:n.5370+68_5370+69delinsCG
NM_001278074.1:c.5370+68_5370+69delinsCG	NP_001265003.1:n.5370+68_5370+69delinsCG
NR_103451.2:n.71-15064_71-15063delinsCG
NM_000093.5:c.5370+68_5370+69delinsCG MANE Select	NP_000084.3:n.5370+68_5370+69delinsCG