Canonical Allele Identifier: CA2680761476

Gene: IYD

Linked Data

• gnomAD v4: 6-150389384-GTTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389385_150389388del , CM000668.2:g.150389385_150389388del	GRCh38
NC_000006.11:g.150710521_150710524del , CM000668.1:g.150710521_150710524del	GRCh37
NC_000006.10:g.150752214_150752217del	NCBI36
NG_016007.1:g.25494_25497del
NG_016007.2:g.25494_25497del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344419.8:c.212_215del MANE Select	ENSP00000343763.4:p.Val71AspfsTer?
ENST00000229447.9:c.212_215del	ENSP00000229447.5:p.Val71AspfsTer?
ENST00000344419.7:c.212_215del	ENSP00000343763.3:p.Val71AspfsTer?
ENST00000367335.7:c.212_215del	ENSP00000356304.3:p.Val71AspfsTer?
ENST00000392255.7:c.212_215del	ENSP00000376084.3:p.Val71AspfsTer?
ENST00000392256.6:c.212_215del	ENSP00000376085.2:p.Val71AspfsTer?
ENST00000422583.2:c.89_92del	ENSP00000397342.2:p.Val30AspfsTer?
ENST00000425615.3:c.47_50del	ENSP00000390081.3:p.Val16AspfsTer?
ENST00000500320.7:c.212_215del	ENSP00000441276.1:p.Val71AspfsTer?
ENST00000546121.1:n.155_158del
NM_001164694.1:c.212_215del	NP_001158166.1:p.Val71AspfsTer?
NM_001164695.1:c.212_215del	NP_001158167.1:p.Val71AspfsTer?
NM_203395.2:c.212_215del	NP_981932.1:p.Val71AspfsTer?
XM_006715478.2:c.212_215del	XP_006715541.1:p.Val71AspfsTer?
XM_006715479.2:c.47_50del	XP_006715542.1:p.Val16AspfsTer?
XR_245516.3:n.375_378del
NM_001318495.1:c.34_37del	NP_001305424.1:p.Leu12ThrfsTer7
NR_134655.1:n.352_355del
XM_006715478.3:c.212_215del	XP_006715541.1:p.Val71AspfsTer?
XM_006715479.3:c.47_50del	XP_006715542.1:p.Val16AspfsTer?
NM_001164694.2:c.212_215del	NP_001158166.1:p.Val71AspfsTer?
NM_001164695.2:c.212_215del	NP_001158167.1:p.Val71AspfsTer?
NM_001318495.2:c.34_37del	NP_001305424.1:p.Leu12ThrfsTer7
NM_203395.3:c.212_215del MANE Select	NP_981932.1:p.Val71AspfsTer?
NR_134655.2:n.232_235del