Canonical Allele Identifier: CA2695200831

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2629571
• ClinVar RCV Id: RCV003414263

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572407_73572408insGTCTTTCCAAGATTGGAAT , CM000664.2:g.73572407_73572408insGTCTTTCCAAGATTGGAAT	GRCh38
NC_000002.11:g.73799534_73799535insGTCTTTCCAAGATTGGAAT , CM000664.1:g.73799534_73799535insGTCTTTCCAAGATTGGAAT	GRCh37
NC_000002.10:g.73653042_73653043insGTCTTTCCAAGATTGGAAT	NCBI36
NG_011690.1:g.191655_191656insGTCTTTCCAAGATTGGAAT , LRG_741:g.191655_191656insGTCTTTCCAAGATTGGAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10149_10150insGTCTTTCCAAGATTGGAAT	ENSP00000507671.1:p.Trp3384ValfsTer19
ENST00000682801.1:c.10149_10150insGTCTTTCCAAGATTGGAAT	ENSP00000507862.1:p.Trp3384ValfsTer19
ENST00000682859.1:c.10149_10150insGTCTTTCCAAGATTGGAAT	ENSP00000508222.1:p.Trp3384ValfsTer19
ENST00000683791.1:c.3235_3236insGTCTTTCCAAGATTGGAAT
ENST00000684460.1:c.7430_7431insGTCTTTCCAAGATTGGAAT
ENST00000684548.1:c.10149_10150insGTCTTTCCAAGATTGGAAT	ENSP00000507421.1:p.Trp3384ValfsTer19
ENST00000684590.1:c.4596_4597insGTCTTTCCAAGATTGGAAT	ENSP00000507376.1:p.Trp1533ValfsTer19
ENST00000684656.1:c.7475_7476insGTCTTTCCAAGATTGGAAT
ENST00000613296.6:c.10530_10531insGTCTTTCCAAGATTGGAAT MANE Select	ENSP00000482968.1:p.Trp3511ValfsTer19
ENST00000651057.1:c.684_685insGTCTTTCCAAGATTGGAAT	ENSP00000498504.1:p.Trp229ValfsTer19
ENST00000651434.1:c.1886_1887insGTCTTTCCAAGATTGGAAT
ENST00000652487.1:c.1627_1628insGTCTTTCCAAGATTGGAAT
ENST00000423048.5:c.4021_4022insGTCTTTCCAAGATTGGAAT	ENSP00000399833.1:n.4021_4022insGTCTTTCCA...
ENST00000484298.5:c.10404_10405insGTCTTTCCAAGATTGGAAT	ENSP00000478155.1:p.Trp3469ValfsTer19
ENST00000613296.4:c.10530_10531insGTCTTTCCAAGATTGGAAT	ENSP00000482968.1:p.Trp3511ValfsTer19
ENST00000614410.4:c.10530_10531insGTCTTTCCAAGATTGGAAT	ENSP00000479094.1:p.Trp3511ValfsTer19
ENST00000620466.4:n.4333_4334insGTCTTTCCAAGATTGGAAT
NM_015120.4:c.10533_10534insGTCTTTCCAAGATTGGAAT , LRG_741t1:c.10533_10534insGTCTTTCCAAGATTGGAAT	NP_055935.4:p.Trp3512ValfsTer19
NM_001378454.1:c.10530_10531insGTCTTTCCAAGATTGGAAT MANE Select	NP_001365383.1:p.Trp3511ValfsTer19