Canonical Allele Identifier: CA2466664419

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381012_154381014delinsTCA , CM000685.2:g.154381012_154381014delinsTCA	GRCh38
NC_000023.10:g.153609372_153609374delinsTCA , CM000685.1:g.153609372_153609374delinsTCA	GRCh37
NC_000023.9:g.153262566_153262568delinsTCA	NCBI36
NG_008677.1:g.11577_11579delinsTCA , LRG_745:g.11577_11579delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+8_572+10delinsTCA	ENSP00000507245.1:n.572+8_572+10delinsTCA
ENST00000682478.1:n.762+8_762+10delinsTCA
ENST00000683576.1:n.770_772delinsTCA
ENST00000683627.1:c.580_582delinsTCA	ENSP00000507533.1:p.Ser194=
ENST00000684082.1:c.537_539delinsTCA	ENSP00000508266.1:n.537_539delinsTCA
ENST00000684633.1:n.552_554delinsTCA
ENST00000684678.1:c.568+8_568+10delinsTCA	ENSP00000507059.1:n.568+8_568+10delinsTCA
ENST00000369842.9:c.580_582delinsTCA MANE Select	ENSP00000358857.4:p.Ser194=
ENST00000369835.3:c.475_477delinsTCA	ENSP00000358850.3:p.Ser159=
ENST00000369842.8:c.580_582delinsTCA	ENSP00000358857.4:p.Ser194=
ENST00000428228.5:c.*485_*487delinsTCA	ENSP00000401081.1:n.*485_*487delinsTCA
ENST00000471965.1:n.369_371delinsTCA
ENST00000486738.5:n.1017_1019delinsTCA
ENST00000492448.1:n.563_565delinsTCA
NM_000117.2:c.580_582delinsTCA , LRG_745t1:c.580_582delinsTCA	NP_000108.1:p.Ser194=
XM_024452349.1:c.586_588delinsTCA	XP_024308117.1:p.Ser196=
NM_000117.3:c.580_582delinsTCA MANE Select	NP_000108.1:p.Ser194=