Canonical Allele Identifier: CA2695115157

Gene: EMD

Linked Data

• gnomAD v4: X-154380071-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380072_154380073insTG , CM000685.2:g.154380072_154380073insTG	GRCh38
NC_000023.10:g.153608432_153608433insTG , CM000685.1:g.153608432_153608433insTG	GRCh37
NC_000023.9:g.153261626_153261627insTG	NCBI36
NG_008677.1:g.10637_10638insTG , LRG_745:g.10637_10638insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+53_265+54insTG	ENSP00000507245.1:n.265+53_265+54insTG
ENST00000682478.1:n.294_295insTG
ENST00000683576.1:n.294_295insTG
ENST00000683627.1:c.265+53_265+54insTG	ENSP00000507533.1:n.265+53_265+54insTG
ENST00000684082.1:c.265+53_265+54insTG	ENSP00000508266.1:n.265+53_265+54insTG
ENST00000684633.1:n.237+53_237+54insTG
ENST00000684678.1:c.261+53_261+54insTG	ENSP00000507059.1:n.261+53_261+54insTG
ENST00000369842.9:c.265+53_265+54insTG MANE Select	ENSP00000358857.4:n.265+53_265+54insTG
ENST00000369835.3:c.160+53_160+54insTG	ENSP00000358850.3:n.160+53_160+54insTG
ENST00000369842.8:c.265+53_265+54insTG	ENSP00000358857.4:n.265+53_265+54insTG
ENST00000428228.5:c.*170+53_*170+54insTG	ENSP00000401081.1:n.*170+53_*170+54insTG
ENST00000468294.5:n.225+53_225+54insTG
ENST00000485261.1:n.294_295insTG
ENST00000486738.5:n.462_463insTG
ENST00000492448.1:n.248+53_248+54insTG
ENST00000494443.5:n.375_376insTG
NM_000117.2:c.265+53_265+54insTG , LRG_745t1:c.265+53_265+54insTG	NP_000108.1:n.265+53_265+54insTG
XM_024452349.1:c.110_111insTG	XP_024308117.1:p.Pro38AspfsTer19
NM_000117.3:c.265+53_265+54insTG MANE Select	NP_000108.1:n.265+53_265+54insTG