Canonical Allele Identifier: CA1883396719

Gene: COL5A1

Linked Data

• dbSNP Id: rs1830130560

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842311del , CM000671.2:g.134842311del	GRCh38
NC_000009.11:g.137734157del , CM000671.1:g.137734157del	GRCh37
NC_000009.10:g.136873978del	NCBI36
NG_008030.1:g.205506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*8del	ENSP00000360885.4:n.*8del
ENST00000371817.8:c.*8del MANE Select	ENSP00000360882.3:n.*8del
ENST00000371817.7:c.*8del	ENSP00000360882.3:n.*8del
ENST00000618395.4:c.*8del	ENSP00000481360.1:n.*8del
NM_000093.4:c.*8del	NP_000084.3:n.*8del
NM_001278074.1:c.*8del	NP_001265003.1:n.*8del
NR_103451.2:n.71-22101del
NM_000093.5:c.*8del MANE Select	NP_000084.3:n.*8del