Canonical Allele Identifier: CA1742701149

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213091_129213092delinsGT , CM000669.2:g.129213091_129213092delinsGT	GRCh38
NC_000007.13:g.128852932_128852933delinsGT , CM000669.1:g.128852932_128852933delinsGT	GRCh37
NC_000007.12:g.128640168_128640169delinsGT	NCBI36
NG_023340.1:g.29220_29221delinsGT
NG_023340.2:g.29220_29221delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*640_*641delinsGT MANE Select	ENSP00000249373.3:n.*640_*641delinsGT
ENST00000655644.1:c.*2759_*2760delinsGT	ENSP00000499377.1:n.*2759_*2760delinsGT
ENST00000249373.7:c.*640_*641delinsGT	ENSP00000249373.3:n.*640_*641delinsGT
NM_005631.4:c.*640_*641delinsGT	NP_005622.1:n.*640_*641delinsGT
XM_011516522.1:c.*640_*641delinsGT	XP_011514824.1:n.*640_*641delinsGT
XM_024446891.1:c.*640_*641delinsGT	XP_024302659.1:n.*640_*641delinsGT
NM_005631.5:c.*640_*641delinsGT MANE Select	NP_005622.1:n.*640_*641delinsGT