Canonical Allele Identifier: CA1672401631

Gene: IYD

Linked Data

• dbSNP Id: rs1778021975
• gnomAD v4: 6-150389358-ATGAATGGCAAGAATCAGAAGAAAATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389363_150389389del , CM000668.2:g.150389363_150389389del	GRCh38
NC_000006.11:g.150710499_150710525del , CM000668.1:g.150710499_150710525del	GRCh37
NC_000006.10:g.150752192_150752218del	NCBI36
NG_016007.1:g.25472_25498del
NG_016007.2:g.25472_25498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.190_216del MANE Select	ENSP00000343763.4:p.Trp64_Glu72del
ENST00000229447.9:c.190_216del	ENSP00000229447.5:p.Trp64_Glu72del
ENST00000344419.7:c.190_216del	ENSP00000343763.3:p.Trp64_Glu72del
ENST00000367335.7:c.190_216del	ENSP00000356304.3:p.Trp64_Glu72del
ENST00000392255.7:c.190_216del	ENSP00000376084.3:p.Trp64_Glu72del
ENST00000392256.6:c.190_216del	ENSP00000376085.2:p.Trp64_Glu72del
ENST00000422583.2:c.67_93del	ENSP00000397342.2:p.Trp23_Glu31del
ENST00000425615.3:c.25_51del	ENSP00000390081.3:p.Trp9_Glu17del
ENST00000500320.7:c.190_216del	ENSP00000441276.1:p.Trp64_Glu72del
ENST00000546121.1:n.133_159del
NM_001164694.1:c.190_216del	NP_001158166.1:p.Trp64_Glu72del
NM_001164695.1:c.190_216del	NP_001158167.1:p.Trp64_Glu72del
NM_203395.2:c.190_216del	NP_981932.1:p.Trp64_Glu72del
XM_006715478.2:c.190_216del	XP_006715541.1:p.Trp64_Glu72del
XM_006715479.2:c.25_51del	XP_006715542.1:p.Trp9_Glu17del
XR_245516.3:n.353_379del
NM_001318495.1:c.12_38del	NP_001305424.1:p.Gly5_Asn13del
NR_134655.1:n.330_356del
XM_006715478.3:c.190_216del	XP_006715541.1:p.Trp64_Glu72del
XM_006715479.3:c.25_51del	XP_006715542.1:p.Trp9_Glu17del
NM_001164694.2:c.190_216del	NP_001158166.1:p.Trp64_Glu72del
NM_001164695.2:c.190_216del	NP_001158167.1:p.Trp64_Glu72del
NM_001318495.2:c.12_38del	NP_001305424.1:p.Gly5_Asn13del
NM_203395.3:c.190_216del MANE Select	NP_981932.1:p.Trp64_Glu72del
NR_134655.2:n.210_236del