Canonical Allele Identifier: CA1129890367

Gene: COL5A1

Linked Data

• dbSNP Id: rs1839803301
• gnomAD v3: 9-134835112-TACG-T
• gnomAD v4: 9-134835112-TACG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835115_134835117del , CM000671.2:g.134835115_134835117del	GRCh38
NC_000009.11:g.137726961_137726963del , CM000671.1:g.137726961_137726963del	GRCh37
NC_000009.10:g.136866782_136866784del	NCBI36
NG_008030.1:g.198310_198312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5281_5283del	ENSP00000360885.4:p.Asp1761del
ENST00000371817.8:c.5281_5283del MANE Select	ENSP00000360882.3:p.Asp1761del
ENST00000371817.7:c.5281_5283del	ENSP00000360882.3:p.Asp1761del
ENST00000371820.3:c.539_541del
ENST00000618395.4:c.5281_5283del	ENSP00000481360.1:p.Asp1761del
NM_000093.4:c.5281_5283del	NP_000084.3:p.Asp1761del
NM_001278074.1:c.5281_5283del	NP_001265003.1:p.Asp1761del
NR_103451.2:n.71-14906_71-14904del
NM_000093.5:c.5281_5283del MANE Select	NP_000084.3:p.Asp1761del