Canonical Allele Identifier: CA2684857153

Gene: SMO

Linked Data

• gnomAD v4: 7-129213116-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213118_129213119del , CM000669.2:g.129213118_129213119del	GRCh38
NC_000007.13:g.128852959_128852960del , CM000669.1:g.128852959_128852960del	GRCh37
NC_000007.12:g.128640195_128640196del	NCBI36
NG_023340.1:g.29247_29248del
NG_023340.2:g.29247_29248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*667_*668del MANE Select	ENSP00000249373.3:n.*667_*668del
ENST00000655644.1:c.*2786_*2787del	ENSP00000499377.1:n.*2786_*2787del
ENST00000249373.7:c.*667_*668del	ENSP00000249373.3:n.*667_*668del
NM_005631.4:c.*667_*668del	NP_005622.1:n.*667_*668del
XM_011516522.1:c.*667_*668del	XP_011514824.1:n.*667_*668del
XM_024446891.1:c.*667_*668del	XP_024302659.1:n.*667_*668del
NM_005631.5:c.*667_*668del MANE Select	NP_005622.1:n.*667_*668del