Canonical Allele Identifier: CA1883397637

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843350_134843351delinsAT , CM000671.2:g.134843350_134843351delinsAT	GRCh38
NC_000009.11:g.137735196_137735197delinsAT , CM000671.1:g.137735196_137735197delinsAT	GRCh37
NC_000009.10:g.136875017_136875018delinsAT	NCBI36
NG_008030.1:g.206545_206546delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1047_*1048delinsAT	ENSP00000360885.4:n.*1047_*1048delinsAT
ENST00000371817.8:c.*1047_*1048delinsAT MANE Select	ENSP00000360882.3:n.*1047_*1048delinsAT
ENST00000371817.7:c.*1047_*1048delinsAT	ENSP00000360882.3:n.*1047_*1048delinsAT
ENST00000618395.4:c.*1047_*1048delinsAT	ENSP00000481360.1:n.*1047_*1048delinsAT
NM_000093.4:c.*1047_*1048delinsAT	NP_000084.3:n.*1047_*1048delinsAT
NM_001278074.1:c.*1047_*1048delinsAT	NP_001265003.1:n.*1047_*1048delinsAT
NR_103451.2:n.71-23142_71-23141delinsAT
NM_000093.5:c.*1047_*1048delinsAT MANE Select	NP_000084.3:n.*1047_*1048delinsAT