Canonical Allele Identifier: CA2786218988

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842875_134842876insAA , CM000671.2:g.134842875_134842876insAA	GRCh38
NC_000009.11:g.137734721_137734722insAA , CM000671.1:g.137734721_137734722insAA	GRCh37
NC_000009.10:g.136874542_136874543insAA	NCBI36
NG_008030.1:g.206070_206071insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*572_*573insAA	ENSP00000360885.4:n.*572_*573insAA
ENST00000371817.8:c.*572_*573insAA MANE Select	ENSP00000360882.3:n.*572_*573insAA
ENST00000371817.7:c.*572_*573insAA	ENSP00000360882.3:n.*572_*573insAA
ENST00000618395.4:c.*572_*573insAA	ENSP00000481360.1:n.*572_*573insAA
NM_000093.4:c.*572_*573insAA	NP_000084.3:n.*572_*573insAA
NM_001278074.1:c.*572_*573insAA	NP_001265003.1:n.*572_*573insAA
NR_103451.2:n.71-22667_71-22666insTT
NM_000093.5:c.*572_*573insAA MANE Select	NP_000084.3:n.*572_*573insAA