Canonical Allele Identifier: CA2466664445

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381049_154381050delinsTC , CM000685.2:g.154381049_154381050delinsTC	GRCh38
NC_000023.10:g.153609409_153609410delinsTC , CM000685.1:g.153609409_153609410delinsTC	GRCh37
NC_000023.9:g.153262603_153262604delinsTC	NCBI36
NG_008677.1:g.11614_11615delinsTC , LRG_745:g.11614_11615delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+45_572+46delinsTC	ENSP00000507245.1:n.572+45_572+46delinsTC
ENST00000682478.1:n.762+45_762+46delinsTC
ENST00000683576.1:n.807_808delinsTC
ENST00000683627.1:c.617_618delinsTC	ENSP00000507533.1:p.Ile206=
ENST00000684082.1:c.574_575delinsTC	ENSP00000508266.1:n.574_575delinsTC
ENST00000684633.1:n.589_590delinsTC
ENST00000684678.1:c.568+45_568+46delinsTC	ENSP00000507059.1:n.568+45_568+46delinsTC
ENST00000369842.9:c.617_618delinsTC MANE Select	ENSP00000358857.4:p.Ile206=
ENST00000369835.3:c.512_513delinsTC	ENSP00000358850.3:p.Ile171=
ENST00000369842.8:c.617_618delinsTC	ENSP00000358857.4:p.Ile206=
ENST00000428228.5:c.*522_*523delinsTC	ENSP00000401081.1:n.*522_*523delinsTC
ENST00000471965.1:n.406_407delinsTC
ENST00000486738.5:n.1054_1055delinsTC
ENST00000492448.1:n.600_601delinsTC
NM_000117.2:c.617_618delinsTC , LRG_745t1:c.617_618delinsTC	NP_000108.1:p.Ile206=
XM_024452349.1:c.623_624delinsTC	XP_024308117.1:p.Ile208=
NM_000117.3:c.617_618delinsTC MANE Select	NP_000108.1:p.Ile206=