Canonical Allele Identifier: CA1742701487

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213244_129213245delinsTA , CM000669.2:g.129213244_129213245delinsTA	GRCh38
NC_000007.13:g.128853085_128853086delinsTA , CM000669.1:g.128853085_128853086delinsTA	GRCh37
NC_000007.12:g.128640321_128640322delinsTA	NCBI36
NG_023340.1:g.29373_29374delinsTA
NG_023340.2:g.29373_29374delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*793_*794delinsTA MANE Select	ENSP00000249373.3:n.*793_*794delinsTA
ENST00000655644.1:c.*2912_*2913delinsTA	ENSP00000499377.1:n.*2912_*2913delinsTA
ENST00000249373.7:c.*793_*794delinsTA	ENSP00000249373.3:n.*793_*794delinsTA
NM_005631.4:c.*793_*794delinsTA	NP_005622.1:n.*793_*794delinsTA
XM_011516522.1:c.*793_*794delinsTA	XP_011514824.1:n.*793_*794delinsTA
XM_024446891.1:c.*793_*794delinsTA	XP_024302659.1:n.*793_*794delinsTA
NM_005631.5:c.*793_*794delinsTA MANE Select	NP_005622.1:n.*793_*794delinsTA