Canonical Allele Identifier: CA1883338812

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731324_134731325delinsAG , CM000671.2:g.134731324_134731325delinsAG	GRCh38
NC_000009.11:g.137623170_137623171delinsAG , CM000671.1:g.137623170_137623171delinsAG	GRCh37
NC_000009.10:g.136762991_136762992delinsAG	NCBI36
NG_008030.1:g.94519_94520delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1165-172_1165-171delinsAG	ENSP00000360885.4:n.1165-172_1165-171delinsAG
ENST00000371817.8:c.1165-172_1165-171delinsAG MANE Select	ENSP00000360882.3:n.1165-172_1165-171delinsAG
ENST00000371817.7:c.1165-172_1165-171delinsAG	ENSP00000360882.3:n.1165-172_1165-171delinsAG
ENST00000618395.4:c.1165-172_1165-171delinsAG	ENSP00000481360.1:n.1165-172_1165-171delinsAG
NM_000093.4:c.1165-172_1165-171delinsAG	NP_000084.3:n.1165-172_1165-171delinsAG
NM_001278074.1:c.1165-172_1165-171delinsAG	NP_001265003.1:n.1165-172_1165-171delinsAG
XR_929712.1:n.1567-172_1567-171delinsAG
XR_929713.1:n.1567-172_1567-171delinsAG
XM_017014266.2:c.1165-172_1165-171delinsAG	XP_016869755.1:n.1165-172_1165-171delinsAG
XR_001746183.1:n.1563-172_1563-171delinsAG
NM_000093.5:c.1165-172_1165-171delinsAG MANE Select	NP_000084.3:n.1165-172_1165-171delinsAG