Canonical Allele Identifier: CA1742701245

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213121_129213122delinsCT , CM000669.2:g.129213121_129213122delinsCT	GRCh38
NC_000007.13:g.128852962_128852963delinsCT , CM000669.1:g.128852962_128852963delinsCT	GRCh37
NC_000007.12:g.128640198_128640199delinsCT	NCBI36
NG_023340.1:g.29250_29251delinsCT
NG_023340.2:g.29250_29251delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*670_*671delinsCT MANE Select	ENSP00000249373.3:n.*670_*671delinsCT
ENST00000655644.1:c.*2789_*2790delinsCT	ENSP00000499377.1:n.*2789_*2790delinsCT
ENST00000249373.7:c.*670_*671delinsCT	ENSP00000249373.3:n.*670_*671delinsCT
NM_005631.4:c.*670_*671delinsCT	NP_005622.1:n.*670_*671delinsCT
XM_011516522.1:c.*670_*671delinsCT	XP_011514824.1:n.*670_*671delinsCT
XM_024446891.1:c.*670_*671delinsCT	XP_024302659.1:n.*670_*671delinsCT
NM_005631.5:c.*670_*671delinsCT MANE Select	NP_005622.1:n.*670_*671delinsCT