Canonical Allele Identifier: CA2504539362

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379713_154379714insGCGACCTCG , CM000685.2:g.154379713_154379714insGCGACCTCG	GRCh38
NC_000023.10:g.153608073_153608074insGCGACCTCG , CM000685.1:g.153608073_153608074insGCGACCTCG	GRCh37
NC_000023.9:g.153261267_153261268insGCGACCTCG	NCBI36
NG_008677.1:g.10278_10279insGCGACCTCG , LRG_745:g.10278_10279insGCGACCTCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.106_107insGCGACCTCG	ENSP00000507245.1:p.Lys36delinsSerAspLeuGlu
ENST00000682478.1:n.82_83insGCGACCTCG
ENST00000683576.1:n.82_83insGCGACCTCG
ENST00000683627.1:c.106_107insGCGACCTCG	ENSP00000507533.1:p.Lys36delinsSerAspLeuGlu
ENST00000684082.1:c.106_107insGCGACCTCG	ENSP00000508266.1:p.Lys36delinsSerAspLeuGlu
ENST00000684633.1:n.78_79insGCGACCTCG
ENST00000684678.1:c.102_103insGCGACCTCG	ENSP00000507059.1:p.Arg34_Arg35insAlaThrSer
ENST00000369842.9:c.106_107insGCGACCTCG MANE Select	ENSP00000358857.4:p.Lys36delinsSerAspLeuGlu
ENST00000369835.3:c.82+147_82+148insGCGACCTCG	ENSP00000358850.3:n.82+147_82+148insGCGACCTCG
ENST00000369842.8:c.106_107insGCGACCTCG	ENSP00000358857.4:p.Lys36delinsSerAspLeuGlu
ENST00000428228.5:c.*11_*12insGCGACCTCG	ENSP00000401081.1:n.*11_*12insGCGACCTCG
ENST00000468294.5:n.66_67insGCGACCTCG
ENST00000485261.1:n.163+147_163+148insGCGACCTCG
ENST00000486738.5:n.250_251insGCGACCTCG
ENST00000492448.1:n.89_90insGCGACCTCG
ENST00000494443.5:n.163_164insGCGACCTCG
NM_000117.2:c.106_107insGCGACCTCG , LRG_745t1:c.106_107insGCGACCTCG	NP_000108.1:p.Lys36delinsSerAspLeuGlu
XM_024452349.1:c.-103_-102insGCGACCTCG	XP_024308117.1:n.-103_-102insGCGACCTCG
NM_000117.3:c.106_107insGCGACCTCG MANE Select	NP_000108.1:p.Lys36delinsSerAspLeuGlu