Canonical Allele Identifier: CA1742701052

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213061_129213064delinsATCC , CM000669.2:g.129213061_129213064delinsATCC	GRCh38
NC_000007.13:g.128852902_128852905delinsATCC , CM000669.1:g.128852902_128852905delinsATCC	GRCh37
NC_000007.12:g.128640138_128640141delinsATCC	NCBI36
NG_023340.1:g.29190_29193delinsATCC
NG_023340.2:g.29190_29193delinsATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*610_*613delinsATCC MANE Select	ENSP00000249373.3:n.*610_*613delinsATCC
ENST00000655644.1:c.*2729_*2732delinsATCC	ENSP00000499377.1:n.*2729_*2732delinsATCC
ENST00000249373.7:c.*610_*613delinsATCC	ENSP00000249373.3:n.*610_*613delinsATCC
NM_005631.4:c.*610_*613delinsATCC	NP_005622.1:n.*610_*613delinsATCC
XM_011516522.1:c.*610_*613delinsATCC	XP_011514824.1:n.*610_*613delinsATCC
XM_024446891.1:c.*610_*613delinsATCC	XP_024302659.1:n.*610_*613delinsATCC
NM_005631.5:c.*610_*613delinsATCC MANE Select	NP_005622.1:n.*610_*613delinsATCC