Canonical Allele Identifier: CA5318866

Gene: COL5A1

Linked Data

• dbSNP Id: rs771824533
• ExAC: 9:137642608 CAG / C
• gnomAD v2: 9-137642608-CAG-C
• gnomAD v4: 9-134750762-CAG-C
• MyVariant Identifiers: chr9:g.137642609_137642610del (hg19) ; chr9:g.134750763_134750764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750765_134750766del , CM000671.2:g.134750765_134750766del	GRCh38
NC_000009.11:g.137642611_137642612del , CM000671.1:g.137642611_137642612del	GRCh37
NC_000009.10:g.136782432_136782433del	NCBI36
NG_008030.1:g.113960_113961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1570-25_1570-24del	ENSP00000360885.4:n.1570-25_1570-24del
ENST00000371817.8:c.1570-25_1570-24del MANE Select	ENSP00000360882.3:n.1570-25_1570-24del
ENST00000371817.7:c.1570-25_1570-24del	ENSP00000360882.3:n.1570-25_1570-24del
ENST00000618395.4:c.1570-25_1570-24del	ENSP00000481360.1:n.1570-25_1570-24del
NM_000093.4:c.1570-25_1570-24del	NP_000084.3:n.1570-25_1570-24del
NM_001278074.1:c.1570-25_1570-24del	NP_001265003.1:n.1570-25_1570-24del
XR_929712.1:n.1972-25_1972-24del
XR_929713.1:n.1972-25_1972-24del
XM_017014266.2:c.1570-25_1570-24del	XP_016869755.1:n.1570-25_1570-24del
XR_001746183.1:n.1968-25_1968-24del
NM_000093.5:c.1570-25_1570-24del MANE Select	NP_000084.3:n.1570-25_1570-24del