Canonical Allele Identifier: CA1883306369

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134691027_134691029delinsCAG , CM000671.2:g.134691027_134691029delinsCAG	GRCh38
NC_000009.11:g.137582873_137582875delinsCAG , CM000671.1:g.137582873_137582875delinsCAG	GRCh37
NC_000009.10:g.136722694_136722696delinsCAG	NCBI36
NG_008030.1:g.54222_54224delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.225_227delinsCAG	ENSP00000360885.4:p.Tyr75=
ENST00000371817.8:c.225_227delinsCAG MANE Select	ENSP00000360882.3:p.Tyr75=
ENST00000371817.7:c.225_227delinsCAG	ENSP00000360882.3:p.Tyr75=
ENST00000464187.1:n.411_413delinsCAG
ENST00000618395.4:c.225_227delinsCAG	ENSP00000481360.1:p.Tyr75=
NM_000093.4:c.225_227delinsCAG	NP_000084.3:p.Tyr75=
NM_001278074.1:c.225_227delinsCAG	NP_001265003.1:p.Tyr75=
XR_929712.1:n.627_629delinsCAG
XR_929713.1:n.627_629delinsCAG
XM_017014266.2:c.225_227delinsCAG	XP_016869755.1:p.Tyr75=
XR_001746183.1:n.623_625delinsCAG
NM_000093.5:c.225_227delinsCAG MANE Select	NP_000084.3:p.Tyr75=