Canonical Allele Identifier: CA1883339043

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731524_134731527delinsATGA , CM000671.2:g.134731524_134731527delinsATGA	GRCh38
NC_000009.11:g.137623370_137623373delinsATGA , CM000671.1:g.137623370_137623373delinsATGA	GRCh37
NC_000009.10:g.136763191_136763194delinsATGA	NCBI36
NG_008030.1:g.94719_94722delinsATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1193_1196delinsATGA	ENSP00000360885.4:p.Asp398=
ENST00000371817.8:c.1193_1196delinsATGA MANE Select	ENSP00000360882.3:p.Asp398=
ENST00000371817.7:c.1193_1196delinsATGA	ENSP00000360882.3:p.Asp398=
ENST00000618395.4:c.1193_1196delinsATGA	ENSP00000481360.1:p.Asp398=
NM_000093.4:c.1193_1196delinsATGA	NP_000084.3:p.Asp398=
NM_001278074.1:c.1193_1196delinsATGA	NP_001265003.1:p.Asp398=
XR_929712.1:n.1595_1598delinsATGA
XR_929713.1:n.1595_1598delinsATGA
XM_017014266.2:c.1193_1196delinsATGA	XP_016869755.1:p.Asp398=
XR_001746183.1:n.1591_1594delinsATGA
NM_000093.5:c.1193_1196delinsATGA MANE Select	NP_000084.3:p.Asp398=