Canonical Allele Identifier: CA1883397474

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843154_134843157delinsACTT , CM000671.2:g.134843154_134843157delinsACTT	GRCh38
NC_000009.11:g.137735000_137735003delinsACTT , CM000671.1:g.137735000_137735003delinsACTT	GRCh37
NC_000009.10:g.136874821_136874824delinsACTT	NCBI36
NG_008030.1:g.206349_206352delinsACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*851_*854delinsACTT	ENSP00000360885.4:n.*851_*854delinsACTT
ENST00000371817.8:c.*851_*854delinsACTT MANE Select	ENSP00000360882.3:n.*851_*854delinsACTT
ENST00000371817.7:c.*851_*854delinsACTT	ENSP00000360882.3:n.*851_*854delinsACTT
ENST00000618395.4:c.*851_*854delinsACTT	ENSP00000481360.1:n.*851_*854delinsACTT
NM_000093.4:c.*851_*854delinsACTT	NP_000084.3:n.*851_*854delinsACTT
NM_001278074.1:c.*851_*854delinsACTT	NP_001265003.1:n.*851_*854delinsACTT
NR_103451.2:n.71-22948_71-22945delinsAAGT
NM_000093.5:c.*851_*854delinsACTT MANE Select	NP_000084.3:n.*851_*854delinsACTT