Canonical Allele Identifier: CA1883393033

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835149_134835150delinsAG , CM000671.2:g.134835149_134835150delinsAG	GRCh38
NC_000009.11:g.137726995_137726996delinsAG , CM000671.1:g.137726995_137726996delinsAG	GRCh37
NC_000009.10:g.136866816_136866817delinsAG	NCBI36
NG_008030.1:g.198344_198345delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5315_5316delinsAG	ENSP00000360885.4:p.Glu1772=
ENST00000371817.8:c.5315_5316delinsAG MANE Select	ENSP00000360882.3:p.Glu1772=
ENST00000371817.7:c.5315_5316delinsAG	ENSP00000360882.3:p.Glu1772=
ENST00000371820.3:c.573_574delinsAG
ENST00000618395.4:c.5315_5316delinsAG	ENSP00000481360.1:p.Glu1772=
NM_000093.4:c.5315_5316delinsAG	NP_000084.3:p.Glu1772=
NM_001278074.1:c.5315_5316delinsAG	NP_001265003.1:p.Glu1772=
NR_103451.2:n.71-14941_71-14940delinsCT
NM_000093.5:c.5315_5316delinsAG MANE Select	NP_000084.3:p.Glu1772=