Canonical Allele Identifier: CA2466663831

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379719_154379722delinsATCT , CM000685.2:g.154379719_154379722delinsATCT	GRCh38
NC_000023.10:g.153608079_153608082delinsATCT , CM000685.1:g.153608079_153608082delinsATCT	GRCh37
NC_000023.9:g.153261273_153261276delinsATCT	NCBI36
NG_008677.1:g.10284_10287delinsATCT , LRG_745:g.10284_10287delinsATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.112_115delinsATCT	ENSP00000507245.1:p.Ile38=
ENST00000682478.1:n.88_91delinsATCT
ENST00000683576.1:n.88_91delinsATCT
ENST00000683627.1:c.112_115delinsATCT	ENSP00000507533.1:p.Ile38=
ENST00000684082.1:c.112_115delinsATCT	ENSP00000508266.1:p.Ile38=
ENST00000684633.1:n.84_87delinsATCT
ENST00000684678.1:c.108_111delinsATCT	ENSP00000507059.1:p.Arg36=
ENST00000369842.9:c.112_115delinsATCT MANE Select	ENSP00000358857.4:p.Ile38=
ENST00000369835.3:c.82+153_82+156delinsATCT	ENSP00000358850.3:n.82+153_82+156delinsATCT
ENST00000369842.8:c.112_115delinsATCT	ENSP00000358857.4:p.Ile38=
ENST00000428228.5:c.*17_*20delinsATCT	ENSP00000401081.1:n.*17_*20delinsATCT
ENST00000468294.5:n.72_75delinsATCT
ENST00000485261.1:n.163+153_163+156delinsATCT
ENST00000486738.5:n.256_259delinsATCT
ENST00000492448.1:n.95_98delinsATCT
ENST00000494443.5:n.169_172delinsATCT
NM_000117.2:c.112_115delinsATCT , LRG_745t1:c.112_115delinsATCT	NP_000108.1:p.Ile38=
XM_024452349.1:c.-97_-94delinsATCT	XP_024308117.1:n.-97_-94delinsATCT
NM_000117.3:c.112_115delinsATCT MANE Select	NP_000108.1:p.Ile38=