Canonical Allele Identifier: CA1883373348

Gene: COL5A1

Linked Data

• dbSNP Id: rs1839037545

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822245_134822246del , CM000671.2:g.134822245_134822246del	GRCh38
NC_000009.11:g.137714091_137714092del , CM000671.1:g.137714091_137714092del	GRCh37
NC_000009.10:g.136853912_136853913del	NCBI36
NG_008030.1:g.185440_185441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+95_4608+96del	ENSP00000360885.4:n.4608+95_4608+96del
ENST00000371817.8:c.4608+95_4608+96del MANE Select	ENSP00000360882.3:n.4608+95_4608+96del
ENST00000371817.7:c.4608+95_4608+96del	ENSP00000360882.3:n.4608+95_4608+96del
ENST00000618395.4:c.4608+95_4608+96del	ENSP00000481360.1:n.4608+95_4608+96del
NM_000093.4:c.4608+95_4608+96del	NP_000084.3:n.4608+95_4608+96del
NM_001278074.1:c.4608+95_4608+96del	NP_001265003.1:n.4608+95_4608+96del
NR_103451.2:n.71-2035_71-2034del
XR_929712.1:n.5010+95_5010+96del
XR_929713.1:n.5010+95_5010+96del
XM_017014266.2:c.4608+95_4608+96del	XP_016869755.1:n.4608+95_4608+96del
XR_001746183.1:n.5006+95_5006+96del
NM_000093.5:c.4608+95_4608+96del MANE Select	NP_000084.3:n.4608+95_4608+96del