Canonical Allele Identifier: CA1261021261

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572545_73572548delinsCAAA , CM000664.2:g.73572545_73572548delinsCAAA	GRCh38
NC_000002.11:g.73799672_73799675delinsCAAA , CM000664.1:g.73799672_73799675delinsCAAA	GRCh37
NC_000002.10:g.73653180_73653183delinsCAAA	NCBI36
NG_011690.1:g.191793_191796delinsCAAA , LRG_741:g.191793_191796delinsCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10287_10290delinsCAAA	ENSP00000507671.1:p.Asn3429=
ENST00000682801.1:c.10287_10290delinsCAAA	ENSP00000507862.1:p.Asn3429=
ENST00000682859.1:c.10287_10290delinsCAAA	ENSP00000508222.1:p.Asn3429=
ENST00000683791.1:c.3373_3376delinsCAAA
ENST00000684460.1:c.7568_7571delinsCAAA
ENST00000684548.1:c.10287_10290delinsCAAA	ENSP00000507421.1:p.Asn3429=
ENST00000684590.1:c.4734_4737delinsCAAA	ENSP00000507376.1:p.Asn1578=
ENST00000684656.1:c.7613_7616delinsCAAA
ENST00000613296.6:c.10668_10671delinsCAAA MANE Select	ENSP00000482968.1:p.Asn3556=
ENST00000651057.1:c.822_825delinsCAAA	ENSP00000498504.1:p.Asn274=
ENST00000651434.1:c.2024_2027delinsCAAA
ENST00000651750.1:c.56_59delinsCAAA
ENST00000652487.1:c.1765_1768delinsCAAA
ENST00000423048.5:c.4159_4162delinsCAAA	ENSP00000399833.1:n.4159_4162delinsCAAA
ENST00000484298.5:c.10542_10545delinsCAAA	ENSP00000478155.1:p.Asn3514=
ENST00000613296.4:c.10668_10671delinsCAAA	ENSP00000482968.1:p.Asn3556=
ENST00000614410.4:c.10668_10671delinsCAAA	ENSP00000479094.1:p.Asn3556=
ENST00000620466.4:n.4471_4474delinsCAAA
NM_015120.4:c.10671_10674delinsCAAA , LRG_741t1:c.10671_10674delinsCAAA	NP_055935.4:p.Asn3557=
NM_001378454.1:c.10668_10671delinsCAAA MANE Select	NP_001365383.1:p.Asn3556=