Canonical Allele Identifier: CA2680761480

Gene: IYD

Linked Data

• gnomAD v4: 6-150389516-GTCATTGATAATGTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389520_150389534del , CM000668.2:g.150389520_150389534del	GRCh38
NC_000006.11:g.150710656_150710670del , CM000668.1:g.150710656_150710670del	GRCh37
NC_000006.10:g.150752349_150752363del	NCBI36
NG_016007.1:g.25629_25643del
NG_016007.2:g.25629_25643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344419.8:c.347_361del MANE Select	ENSP00000343763.4:p.Ile116_Ile120del
ENST00000229447.9:c.347_361del	ENSP00000229447.5:p.Ile116_Ile120del
ENST00000344419.7:c.347_361del	ENSP00000343763.3:p.Ile116_Ile120del
ENST00000367335.7:c.347_361del	ENSP00000356304.3:p.Ile116_Ile120del
ENST00000392255.7:c.347_361del	ENSP00000376084.3:p.Ile116_Ile120del
ENST00000392256.6:c.347_361del	ENSP00000376085.2:p.Ile116_Ile120del
ENST00000422583.2:c.179+45_179+59del	ENSP00000397342.2:n.179+45_179+59del
ENST00000425615.3:c.182_196del	ENSP00000390081.3:p.Ile61_Ile65del
ENST00000500320.7:c.347_361del	ENSP00000441276.1:p.Ile116_Ile120del
ENST00000546121.1:n.290_304del
NM_001164694.1:c.347_361del	NP_001158166.1:p.Ile116_Ile120del
NM_001164695.1:c.347_361del	NP_001158167.1:p.Ile116_Ile120del
NM_203395.2:c.347_361del	NP_981932.1:p.Ile116_Ile120del
XM_006715478.2:c.347_361del	XP_006715541.1:p.Ile116_Ile120del
XM_006715479.2:c.182_196del	XP_006715542.1:p.Ile61_Ile65del
XR_245516.3:n.510_524del
NM_001318495.1:c.124+45_124+59del	NP_001305424.1:n.124+45_124+59del
NR_134655.1:n.487_501del
XM_006715478.3:c.347_361del	XP_006715541.1:p.Ile116_Ile120del
XM_006715479.3:c.182_196del	XP_006715542.1:p.Ile61_Ile65del
NM_001164694.2:c.347_361del	NP_001158166.1:p.Ile116_Ile120del
NM_001164695.2:c.347_361del	NP_001158167.1:p.Ile116_Ile120del
NM_001318495.2:c.124+45_124+59del	NP_001305424.1:n.124+45_124+59del
NM_203395.3:c.347_361del MANE Select	NP_981932.1:p.Ile116_Ile120del
NR_134655.2:n.367_381del