Canonical Allele Identifier: CA1883397468

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843152_134843157delinsAGACTT , CM000671.2:g.134843152_134843157delinsAGACTT	GRCh38
NC_000009.11:g.137734998_137735003delinsAGACTT , CM000671.1:g.137734998_137735003delinsAGACTT	GRCh37
NC_000009.10:g.136874819_136874824delinsAGACTT	NCBI36
NG_008030.1:g.206347_206352delinsAGACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*849_*854delinsAGACTT	ENSP00000360885.4:n.*849_*854delinsAGACTT
ENST00000371817.8:c.*849_*854delinsAGACTT MANE Select	ENSP00000360882.3:n.*849_*854delinsAGACTT
ENST00000371817.7:c.*849_*854delinsAGACTT	ENSP00000360882.3:n.*849_*854delinsAGACTT
ENST00000618395.4:c.*849_*854delinsAGACTT	ENSP00000481360.1:n.*849_*854delinsAGACTT
NM_000093.4:c.*849_*854delinsAGACTT	NP_000084.3:n.*849_*854delinsAGACTT
NM_001278074.1:c.*849_*854delinsAGACTT	NP_001265003.1:n.*849_*854delinsAGACTT
NR_103451.2:n.71-22948_71-22943delinsAAGTCT
NM_000093.5:c.*849_*854delinsAGACTT MANE Select	NP_000084.3:n.*849_*854delinsAGACTT