Canonical Allele Identifier: CA2573144113

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 1360046
• ClinVar RCV Id: RCV001904682
• dbSNP Id: rs2132683271

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750848_134750850dup , CM000671.2:g.134750848_134750850dup	GRCh38
NC_000009.11:g.137642694_137642696dup , CM000671.1:g.137642694_137642696dup	GRCh37
NC_000009.10:g.136782515_136782517dup	NCBI36
NG_008030.1:g.114043_114045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1628_1630dup	ENSP00000360885.4:p.Ser544Ter
ENST00000371817.8:c.1628_1630dup MANE Select	ENSP00000360882.3:p.Ser544Ter
ENST00000371817.7:c.1628_1630dup	ENSP00000360882.3:p.Ser544Ter
ENST00000618395.4:c.1628_1630dup	ENSP00000481360.1:p.Ser544Ter
NM_000093.4:c.1628_1630dup	NP_000084.3:p.Ser544Ter
NM_001278074.1:c.1628_1630dup	NP_001265003.1:p.Ser544Ter
XR_929712.1:n.2030_2032dup
XR_929713.1:n.2030_2032dup
XM_017014266.2:c.1628_1630dup	XP_016869755.1:p.Ser544Ter
XR_001746183.1:n.2026_2028dup
NM_000093.5:c.1628_1630dup MANE Select	NP_000084.3:p.Ser544Ter