Canonical Allele Identifier: CA2842450426

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835072_134835073del , CM000671.2:g.134835072_134835073del	GRCh38
NC_000009.11:g.137726918_137726919del , CM000671.1:g.137726918_137726919del	GRCh37
NC_000009.10:g.136866739_136866740del	NCBI36
NG_008030.1:g.198267_198268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5238_5239del	ENSP00000360885.4:p.Cys1746Ter
ENST00000371817.8:c.5238_5239del MANE Select	ENSP00000360882.3:p.Cys1746Ter
ENST00000371817.7:c.5238_5239del	ENSP00000360882.3:p.Cys1746Ter
ENST00000371820.3:c.496_497del
ENST00000618395.4:c.5238_5239del	ENSP00000481360.1:p.Cys1746Ter
NM_000093.4:c.5238_5239del	NP_000084.3:p.Cys1746Ter
NM_001278074.1:c.5238_5239del	NP_001265003.1:p.Cys1746Ter
NR_103451.2:n.71-14864_71-14863del
NM_000093.5:c.5238_5239del MANE Select	NP_000084.3:p.Cys1746Ter