Canonical Allele Identifier: CA860886567

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134642263_134642271dup , CM000671.2:g.134642263_134642271dup	GRCh38
NC_000009.11:g.137534109_137534117dup , CM000671.1:g.137534109_137534117dup	GRCh37
NC_000009.10:g.136673930_136673938dup	NCBI36
NG_008030.1:g.5458_5466dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.76_84dup MANE Select	NP_000084.3:p.Leu28_Trp29insLeuLeuLeu
ENST00000371817.8:c.76_84dup MANE Select	ENSP00000360882.3:p.Leu28_Trp29insLeuLeuLeu
NM_000093.4:c.76_84dup	NP_000084.3:p.Leu28_Trp29insLeuLeuLeu
NM_001278074.1:c.76_84dup	NP_001265003.1:p.Leu28_Trp29insLeuLeuLeu
ENST00000371817.7:c.76_84dup	ENSP00000360882.3:p.Leu28_Trp29insLeuLeuLeu
ENST00000371820.4:c.76_84dup	ENSP00000360885.4:p.Leu28_Trp29insLeuLeuLeu
ENST00000618395.4:c.76_84dup	ENSP00000481360.1:p.Leu28_Trp29insLeuLeuLeu
XM_017014266.2:c.76_84dup	XP_016869755.1:p.Leu28_Trp29insLeuLeuLeu
XR_001746183.1:n.474_482dup
XR_929712.1:n.478_486dup
XR_929713.1:n.478_486dup