Canonical Allele Identifier: CA1742701648

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213305_129213306delinsTG , CM000669.2:g.129213305_129213306delinsTG	GRCh38
NC_000007.13:g.128853146_128853147delinsTG , CM000669.1:g.128853146_128853147delinsTG	GRCh37
NC_000007.12:g.128640382_128640383delinsTG	NCBI36
NG_023340.1:g.29434_29435delinsTG
NG_023340.2:g.29434_29435delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*854_*855delinsTG MANE Select	ENSP00000249373.3:n.*854_*855delinsTG
ENST00000655644.1:c.*2973_*2974delinsTG	ENSP00000499377.1:n.*2973_*2974delinsTG
ENST00000249373.7:c.*854_*855delinsTG	ENSP00000249373.3:n.*854_*855delinsTG
NM_005631.4:c.*854_*855delinsTG	NP_005622.1:n.*854_*855delinsTG
XM_011516522.1:c.*854_*855delinsTG	XP_011514824.1:n.*854_*855delinsTG
XM_024446891.1:c.*854_*855delinsTG	XP_024302659.1:n.*854_*855delinsTG
NM_005631.5:c.*854_*855delinsTG MANE Select	NP_005622.1:n.*854_*855delinsTG