Canonical Allele Identifier: CA2692451838

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134701092-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134701093dup , CM000671.2:g.134701093dup	GRCh38
NC_000009.11:g.137592939dup , CM000671.1:g.137592939dup	GRCh37
NC_000009.10:g.136732760dup	NCBI36
NG_008030.1:g.64288dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.492-78dup	ENSP00000360885.4:n.492-78dup
ENST00000371817.8:c.492-78dup MANE Select	ENSP00000360882.3:n.492-78dup
ENST00000371817.7:c.492-78dup	ENSP00000360882.3:n.492-78dup
ENST00000464187.1:n.914-78dup
ENST00000618395.4:c.492-78dup	ENSP00000481360.1:n.492-78dup
NM_000093.4:c.492-78dup	NP_000084.3:n.492-78dup
NM_001278074.1:c.492-78dup	NP_001265003.1:n.492-78dup
XR_929712.1:n.894-78dup
XR_929713.1:n.894-78dup
XM_017014266.2:c.492-78dup	XP_016869755.1:n.492-78dup
XR_001746183.1:n.890-78dup
NM_000093.5:c.492-78dup MANE Select	NP_000084.3:n.492-78dup