Canonical Allele Identifier: CA1650583928
Gene: SIM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.100390543_100390544delinsCA , CM000668.2:g.100390543_100390544delinsCA GRCh38
NC_000006.11:g.100838419_100838420delinsCA , CM000668.1:g.100838419_100838420delinsCA GRCh37
NC_000006.10:g.100945140_100945141delinsCA NCBI36
NG_008230.1:g.78132_78133delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000369208.8:c.2118_2119delinsTG MANE Select ENSP00000358210.4:p.Phe706=
ENST00000262901.4:c.2118_2119delinsTG ENSP00000262901.4:p.Phe706=
ENST00000369208.7:c.2118_2119delinsTG ENSP00000358210.3:p.Phe706=
NM_005068.2:c.2118_2119delinsTG NP_005059.2:p.Phe706=
XM_005267100.2:c.2118_2119delinsTG XP_005267157.1:p.Phe706=
XM_017011197.1:c.2118_2119delinsTG XP_016866686.1:p.Phe706=
NM_001374769.1:c.2118_2119delinsTG NP_001361698.1:p.Phe706=
NM_005068.3:c.2118_2119delinsTG MANE Select NP_005059.2:p.Phe706=
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