Canonical Allele Identifier: CA2579571581

Gene: SMS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978891_21978895del , CM000685.2:g.21978891_21978895del	GRCh38
NC_000023.10:g.21997009_21997013del , CM000685.1:g.21997009_21997013del	GRCh37
NC_000023.9:g.21906930_21906934del	NCBI36
NG_009228.1:g.43168_43172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.675_679del MANE Select	ENSP00000385746.2:p.Ile226TrpfsTer3
ENST00000379404.5:c.516_520del	ENSP00000368714.1:p.Ile173TrpfsTer3
ENST00000404933.6:c.675_679del	ENSP00000385746.2:p.Ile226TrpfsTer3
NM_001258423.1:c.516_520del	NP_001245352.1:p.Ile173TrpfsTer3
NM_004595.4:c.675_679del	NP_004586.2:p.Ile226TrpfsTer3
XM_005274582.1:c.573_577del	XP_005274639.1:p.Ile192TrpfsTer3
XM_011545568.1:c.573_577del	XP_011543870.1:p.Ile192TrpfsTer3
XM_005274582.2:c.573_577del	XP_005274639.1:p.Ile192TrpfsTer3
XM_011545568.2:c.573_577del	XP_011543870.1:p.Ile192TrpfsTer3
XM_017029753.2:c.675_679del	XP_016885242.1:p.Ile226TrpfsTer3
XM_017029754.1:c.573_577del	XP_016885243.1:p.Ile192TrpfsTer3
XM_017029755.1:c.573_577del	XP_016885244.1:p.Ile192TrpfsTer3
XM_024452427.1:c.573_577del	XP_024308195.1:p.Ile192TrpfsTer3
NM_004595.5:c.675_679del MANE Select	NP_004586.2:p.Ile226TrpfsTer3
NM_001258423.2:c.516_520del	NP_001245352.1:p.Ile173TrpfsTer3