Canonical Allele Identifier: CA2684857011

Gene: SMO

Linked Data

• gnomAD v4: 7-129213061-ATCCTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213063_129213068del , CM000669.2:g.129213063_129213068del	GRCh38
NC_000007.13:g.128852904_128852909del , CM000669.1:g.128852904_128852909del	GRCh37
NC_000007.12:g.128640140_128640145del	NCBI36
NG_023340.1:g.29192_29197del
NG_023340.2:g.29192_29197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*612_*617del MANE Select	ENSP00000249373.3:n.*612_*617del
ENST00000655644.1:c.*2731_*2736del	ENSP00000499377.1:n.*2731_*2736del
ENST00000249373.7:c.*612_*617del	ENSP00000249373.3:n.*612_*617del
NM_005631.4:c.*612_*617del	NP_005622.1:n.*612_*617del
XM_011516522.1:c.*612_*617del	XP_011514824.1:n.*612_*617del
XM_024446891.1:c.*612_*617del	XP_024302659.1:n.*612_*617del
NM_005631.5:c.*612_*617del MANE Select	NP_005622.1:n.*612_*617del