Canonical Allele Identifier: CA1883373014

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822102_134822111delinsCACTGGTCCT , CM000671.2:g.134822102_134822111delinsCACTGGTCCT	GRCh38
NC_000009.11:g.137713948_137713957delinsCACTGGTCCT , CM000671.1:g.137713948_137713957delinsCACTGGTCCT	GRCh37
NC_000009.10:g.136853769_136853778delinsCACTGGTCCT	NCBI36
NG_008030.1:g.185297_185306delinsCACTGGTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4560_4569delinsCACTGGTCCT	ENSP00000360885.4:p.Ile1520=
ENST00000371817.8:c.4560_4569delinsCACTGGTCCT MANE Select	ENSP00000360882.3:p.Ile1520=
ENST00000371817.7:c.4560_4569delinsCACTGGTCCT	ENSP00000360882.3:p.Ile1520=
ENST00000618395.4:c.4560_4569delinsCACTGGTCCT	ENSP00000481360.1:p.Ile1520=
NM_000093.4:c.4560_4569delinsCACTGGTCCT	NP_000084.3:p.Ile1520=
NM_001278074.1:c.4560_4569delinsCACTGGTCCT	NP_001265003.1:p.Ile1520=
NR_103451.2:n.71-1902_71-1893delinsAGGACCAGTG
XR_929712.1:n.4962_4971delinsCACTGGTCCT
XR_929713.1:n.4962_4971delinsCACTGGTCCT
XM_017014266.2:c.4560_4569delinsCACTGGTCCT	XP_016869755.1:p.Ile1520=
XR_001746183.1:n.4958_4967delinsCACTGGTCCT
NM_000093.5:c.4560_4569delinsCACTGGTCCT MANE Select	NP_000084.3:p.Ile1520=