Canonical Allele Identifier: CA1261021091

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674949774

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572407_73572408insC , CM000664.2:g.73572407_73572408insC	GRCh38
NC_000002.11:g.73799534_73799535insC , CM000664.1:g.73799534_73799535insC	GRCh37
NC_000002.10:g.73653042_73653043insC	NCBI36
NG_011690.1:g.191655_191656insC , LRG_741:g.191655_191656insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10149_10150insC	ENSP00000507671.1:p.Trp3384LeufsTer13
ENST00000682801.1:c.10149_10150insC	ENSP00000507862.1:p.Trp3384LeufsTer13
ENST00000682859.1:c.10149_10150insC	ENSP00000508222.1:p.Trp3384LeufsTer13
ENST00000683791.1:c.3235_3236insC
ENST00000684460.1:c.7430_7431insC
ENST00000684548.1:c.10149_10150insC	ENSP00000507421.1:p.Trp3384LeufsTer13
ENST00000684590.1:c.4596_4597insC	ENSP00000507376.1:p.Trp1533LeufsTer13
ENST00000684656.1:c.7475_7476insC
ENST00000613296.6:c.10530_10531insC MANE Select	ENSP00000482968.1:p.Trp3511LeufsTer13
ENST00000651057.1:c.684_685insC	ENSP00000498504.1:p.Trp229LeufsTer13
ENST00000651434.1:c.1886_1887insC
ENST00000652487.1:c.1627_1628insC
ENST00000423048.5:c.4021_4022insC	ENSP00000399833.1:n.4021_4022insC
ENST00000484298.5:c.10404_10405insC	ENSP00000478155.1:p.Trp3469LeufsTer13
ENST00000613296.4:c.10530_10531insC	ENSP00000482968.1:p.Trp3511LeufsTer13
ENST00000614410.4:c.10530_10531insC	ENSP00000479094.1:p.Trp3511LeufsTer13
ENST00000620466.4:n.4333_4334insC
NM_015120.4:c.10533_10534insC , LRG_741t1:c.10533_10534insC	NP_055935.4:p.Trp3512LeufsTer13
NM_001378454.1:c.10530_10531insC MANE Select	NP_001365383.1:p.Trp3511LeufsTer13