Canonical Allele Identifier: CA1742701419

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213215_129213222delinsCAGCTCTA , CM000669.2:g.129213215_129213222delinsCAGCTCTA	GRCh38
NC_000007.13:g.128853056_128853063delinsCAGCTCTA , CM000669.1:g.128853056_128853063delinsCAGCTCTA	GRCh37
NC_000007.12:g.128640292_128640299delinsCAGCTCTA	NCBI36
NG_023340.1:g.29344_29351delinsCAGCTCTA
NG_023340.2:g.29344_29351delinsCAGCTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*764_*771delinsCAGCTCTA MANE Select	ENSP00000249373.3:n.*764_*771delinsCAGCTCTA
ENST00000655644.1:c.*2883_*2890delinsCAGCTCTA	ENSP00000499377.1:n.*2883_*2890delinsCAGCTCTA
ENST00000249373.7:c.*764_*771delinsCAGCTCTA	ENSP00000249373.3:n.*764_*771delinsCAGCTCTA
NM_005631.4:c.*764_*771delinsCAGCTCTA	NP_005622.1:n.*764_*771delinsCAGCTCTA
XM_011516522.1:c.*764_*771delinsCAGCTCTA	XP_011514824.1:n.*764_*771delinsCAGCTCTA
XM_024446891.1:c.*764_*771delinsCAGCTCTA	XP_024302659.1:n.*764_*771delinsCAGCTCTA
NM_005631.5:c.*764_*771delinsCAGCTCTA MANE Select	NP_005622.1:n.*764_*771delinsCAGCTCTA