Canonical Allele Identifier: CA1883338876

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731384_134731385delinsTG , CM000671.2:g.134731384_134731385delinsTG	GRCh38
NC_000009.11:g.137623230_137623231delinsTG , CM000671.1:g.137623230_137623231delinsTG	GRCh37
NC_000009.10:g.136763051_136763052delinsTG	NCBI36
NG_008030.1:g.94579_94580delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1165-112_1165-111delinsTG	ENSP00000360885.4:n.1165-112_1165-111delinsTG
ENST00000371817.8:c.1165-112_1165-111delinsTG MANE Select	ENSP00000360882.3:n.1165-112_1165-111delinsTG
ENST00000371817.7:c.1165-112_1165-111delinsTG	ENSP00000360882.3:n.1165-112_1165-111delinsTG
ENST00000618395.4:c.1165-112_1165-111delinsTG	ENSP00000481360.1:n.1165-112_1165-111delinsTG
NM_000093.4:c.1165-112_1165-111delinsTG	NP_000084.3:n.1165-112_1165-111delinsTG
NM_001278074.1:c.1165-112_1165-111delinsTG	NP_001265003.1:n.1165-112_1165-111delinsTG
XR_929712.1:n.1567-112_1567-111delinsTG
XR_929713.1:n.1567-112_1567-111delinsTG
XM_017014266.2:c.1165-112_1165-111delinsTG	XP_016869755.1:n.1165-112_1165-111delinsTG
XR_001746183.1:n.1563-112_1563-111delinsTG
NM_000093.5:c.1165-112_1165-111delinsTG MANE Select	NP_000084.3:n.1165-112_1165-111delinsTG