Canonical Allele Identifier: CA281077
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134818849del , CM000671.2:g.134818849del GRCh38
NC_000009.11:g.137710695del , CM000671.1:g.137710695del GRCh37
NC_000009.10:g.136850516del NCBI36
NG_008030.1:g.182044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.4340del
ENST00000371817.8:c.4340del
ENST00000371817.7:c.4340del
ENST00000618395.4:c.4340del
NM_000093.4:c.4340del
NM_001278074.1:c.4340del
XR_929712.1:n.4742del
XR_929713.1:n.4742del
XM_017014266.2:c.4340del
XR_001746183.1:n.4738del
NM_000093.5:c.4340del