Canonical Allele Identifier: CA2750467773

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572530_73572531insACA , CM000664.2:g.73572530_73572531insACA	GRCh38
NC_000002.11:g.73799657_73799658insACA , CM000664.1:g.73799657_73799658insACA	GRCh37
NC_000002.10:g.73653165_73653166insACA	NCBI36
NG_011690.1:g.191778_191779insACA , LRG_741:g.191778_191779insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10272_10273insACA	ENSP00000507671.1:p.Asn3424_Val3425insThr
ENST00000682801.1:c.10272_10273insACA	ENSP00000507862.1:p.Asn3424_Val3425insThr
ENST00000682859.1:c.10272_10273insACA	ENSP00000508222.1:p.Asn3424_Val3425insThr
ENST00000683791.1:c.3358_3359insACA
ENST00000684460.1:c.7553_7554insACA
ENST00000684548.1:c.10272_10273insACA	ENSP00000507421.1:p.Asn3424_Val3425insThr
ENST00000684590.1:c.4719_4720insACA	ENSP00000507376.1:p.Asn1573_Val1574insThr
ENST00000684656.1:c.7598_7599insACA
ENST00000613296.6:c.10653_10654insACA MANE Select	ENSP00000482968.1:p.Asn3551_Val3552insThr
ENST00000651057.1:c.807_808insACA	ENSP00000498504.1:p.Asn269_Val270insThr
ENST00000651434.1:c.2009_2010insACA
ENST00000651750.1:c.41_42insACA
ENST00000652487.1:c.1750_1751insACA
ENST00000423048.5:c.4144_4145insACA	ENSP00000399833.1:n.4144_4145insACA
ENST00000484298.5:c.10527_10528insACA	ENSP00000478155.1:p.Asn3509_Val3510insThr
ENST00000613296.4:c.10653_10654insACA	ENSP00000482968.1:p.Asn3551_Val3552insThr
ENST00000614410.4:c.10653_10654insACA	ENSP00000479094.1:p.Asn3551_Val3552insThr
ENST00000620466.4:n.4456_4457insACA
NM_015120.4:c.10656_10657insACA , LRG_741t1:c.10656_10657insACA	NP_055935.4:p.Asn3552_Val3553insThr
NM_001378454.1:c.10653_10654insACA MANE Select	NP_001365383.1:p.Asn3551_Val3552insThr