Canonical Allele Identifier: CA324241

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 213036
• ClinVar RCV Id: RCV000199699 ; RCV003758715
• dbSNP Id: rs863223476
• MyVariant Identifiers: chr9:g.137591789_137591791del (hg19) ; chr9:g.137591786_137591788del (hg19) ; chr9:g.134699943_134699945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134699943_134699945del , CM000671.2:g.134699943_134699945del	GRCh38
NC_000009.11:g.137591789_137591791del , CM000671.1:g.137591789_137591791del	GRCh37
NC_000009.10:g.136731610_136731612del	NCBI36
NG_008030.1:g.63138_63140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.312_314del	ENSP00000360885.4:p.Thr105del
ENST00000371817.8:c.312_314del MANE Select	ENSP00000360882.3:p.Thr105del
ENST00000371817.7:c.312_314del	ENSP00000360882.3:p.Thr105del
ENST00000464187.1:n.734_736del
ENST00000618395.4:c.312_314del	ENSP00000481360.1:p.Thr105del
NM_000093.4:c.312_314del	NP_000084.3:p.Thr105del
NM_001278074.1:c.312_314del	NP_001265003.1:p.Thr105del
XR_929712.1:n.714_716del
XR_929713.1:n.714_716del
XM_017014266.2:c.312_314del	XP_016869755.1:p.Thr105del
XR_001746183.1:n.710_712del
NM_000093.5:c.312_314del MANE Select	NP_000084.3:p.Thr105del