Canonical Allele Identifier: CA2841187430

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134699977dup , CM000671.2:g.134699977dup	GRCh38
NC_000009.11:g.137591823dup , CM000671.1:g.137591823dup	GRCh37
NC_000009.10:g.136731644dup	NCBI36
NG_008030.1:g.63172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.346dup	ENSP00000360885.4:p.Leu116ProfsTer?
ENST00000371817.8:c.346dup MANE Select	ENSP00000360882.3:p.Leu116ProfsTer?
ENST00000371817.7:c.346dup	ENSP00000360882.3:p.Leu116ProfsTer?
ENST00000464187.1:n.768dup
ENST00000618395.4:c.346dup	ENSP00000481360.1:p.Leu116ProfsTer?
NM_000093.4:c.346dup	NP_000084.3:p.Leu116ProfsTer?
NM_001278074.1:c.346dup	NP_001265003.1:p.Leu116ProfsTer?
XR_929712.1:n.748dup
XR_929713.1:n.748dup
XM_017014266.2:c.346dup	XP_016869755.1:p.Leu116ProfsTer?
XR_001746183.1:n.744dup
NM_000093.5:c.346dup MANE Select	NP_000084.3:p.Leu116ProfsTer?