Canonical Allele Identifier: CA2586964942

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572483_73572488delinsTCAAA , CM000664.2:g.73572483_73572488delinsTCAAA	GRCh38
NC_000002.11:g.73799610_73799615delinsTCAAA , CM000664.1:g.73799610_73799615delinsTCAAA	GRCh37
NC_000002.10:g.73653118_73653123delinsTCAAA	NCBI36
NG_011690.1:g.191731_191736delinsTCAAA , LRG_741:g.191731_191736delinsTCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10225_10230delinsTCAAA	ENSP00000507671.1:p.Asp3409SerfsTer10
ENST00000682801.1:c.10225_10230delinsTCAAA	ENSP00000507862.1:p.Asp3409SerfsTer10
ENST00000682859.1:c.10225_10230delinsTCAAA	ENSP00000508222.1:p.Asp3409SerfsTer10
ENST00000683791.1:c.3311_3316delinsTCAAA
ENST00000684460.1:c.7506_7511delinsTCAAA
ENST00000684548.1:c.10225_10230delinsTCAAA	ENSP00000507421.1:p.Asp3409SerfsTer10
ENST00000684590.1:c.4672_4677delinsTCAAA	ENSP00000507376.1:p.Asp1558SerfsTer10
ENST00000684656.1:c.7551_7556delinsTCAAA
ENST00000613296.6:c.10606_10611delinsTCAAA MANE Select	ENSP00000482968.1:p.Asp3536SerfsTer10
ENST00000651057.1:c.760_765delinsTCAAA	ENSP00000498504.1:p.Asp254SerfsTer10
ENST00000651434.1:c.1962_1967delinsTCAAA
ENST00000652487.1:c.1703_1708delinsTCAAA
ENST00000423048.5:c.4097_4102delinsTCAAA	ENSP00000399833.1:n.4097_4102delinsTCAAA
ENST00000484298.5:c.10480_10485delinsTCAAA	ENSP00000478155.1:p.Asp3494SerfsTer10
ENST00000613296.4:c.10606_10611delinsTCAAA	ENSP00000482968.1:p.Asp3536SerfsTer10
ENST00000614410.4:c.10606_10611delinsTCAAA	ENSP00000479094.1:p.Asp3536SerfsTer10
ENST00000620466.4:n.4409_4414delinsTCAAA
NM_015120.4:c.10609_10614delinsTCAAA , LRG_741t1:c.10609_10614delinsTCAAA	NP_055935.4:p.Asp3537SerfsTer10
NM_001378454.1:c.10606_10611delinsTCAAA MANE Select	NP_001365383.1:p.Asp3536SerfsTer10