Canonical Allele Identifier: CA2562220825

Gene: SMO

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213302del , CM000669.2:g.129213302del	GRCh38
NC_000007.13:g.128853143del , CM000669.1:g.128853143del	GRCh37
NC_000007.12:g.128640379del	NCBI36
NG_023340.1:g.29431del
NG_023340.2:g.29431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*851del MANE Select	ENSP00000249373.3:n.*851del
ENST00000655644.1:c.*2970del	ENSP00000499377.1:n.*2970del
ENST00000249373.7:c.*851del	ENSP00000249373.3:n.*851del
NM_005631.4:c.*851del	NP_005622.1:n.*851del
XM_011516522.1:c.*851del	XP_011514824.1:n.*851del
XM_024446891.1:c.*851del	XP_024302659.1:n.*851del
NM_005631.5:c.*851del MANE Select	NP_005622.1:n.*851del