Canonical Allele Identifier: CA5319964

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134811486dup , CM000671.2:g.134811486dup	GRCh38
NC_000009.11:g.137703332dup , CM000671.1:g.137703332dup	GRCh37
NC_000009.10:g.136843153dup	NCBI36
NG_008030.1:g.174681dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.3583-6dup MANE Select	NP_000084.3:n.3583-6dup
ENST00000371817.8:c.3583-6dup MANE Select	ENSP00000360882.3:n.3583-6dup
NM_000093.4:c.3583-6dup	NP_000084.3:n.3583-6dup
NM_001278074.1:c.3583-6dup	NP_001265003.1:n.3583-6dup
ENST00000371817.7:c.3583-6dup	ENSP00000360882.3:n.3583-6dup
ENST00000371820.4:c.3583-6dup	ENSP00000360885.4:n.3583-6dup
ENST00000618395.4:c.3583-6dup	ENSP00000481360.1:n.3583-6dup
XM_017014266.2:c.3583-6dup	XP_016869755.1:n.3583-6dup
XR_001746183.1:n.3981-6dup
XR_929712.1:n.3985-6dup
XR_929713.1:n.3985-6dup