Canonical Allele Identifier: CA1260981158

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489783_73489784delinsAC , CM000664.2:g.73489783_73489784delinsAC	GRCh38
NC_000002.11:g.73716910_73716911delinsAC , CM000664.1:g.73716910_73716911delinsAC	GRCh37
NC_000002.10:g.73570418_73570419delinsAC	NCBI36
NG_011690.1:g.109031_109032delinsAC , LRG_741:g.109031_109032delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7443_7444delinsAC	ENSP00000507671.1:p.Gly2481=
ENST00000682801.1:c.7443_7444delinsAC	ENSP00000507862.1:p.Gly2481=
ENST00000682859.1:c.7443_7444delinsAC	ENSP00000508222.1:p.Gly2481=
ENST00000683791.1:c.835_836delinsAC
ENST00000684460.1:c.4895_4896delinsAC
ENST00000684548.1:c.7443_7444delinsAC	ENSP00000507421.1:p.Gly2481=
ENST00000684590.1:c.1890_1891delinsAC	ENSP00000507376.1:p.Gly630=
ENST00000684656.1:c.4895_4896delinsAC
ENST00000613296.6:c.7824_7825delinsAC MANE Select	ENSP00000482968.1:p.Gly2608=
ENST00000651434.1:c.896-29992_896-29991delinsAC
ENST00000423048.5:c.2655_2656delinsAC	ENSP00000399833.1:p.Gly885=
ENST00000484298.5:c.7698_7699delinsAC	ENSP00000478155.1:p.Gly2566=
ENST00000613296.4:c.7824_7825delinsAC	ENSP00000482968.1:p.Gly2608=
ENST00000614410.4:c.7824_7825delinsAC	ENSP00000479094.1:p.Gly2608=
ENST00000620466.4:n.1627_1628delinsAC
NM_015120.4:c.7827_7828delinsAC , LRG_741t1:c.7827_7828delinsAC	NP_055935.4:p.Gly2609=
NM_001378454.1:c.7824_7825delinsAC MANE Select	NP_001365383.1:p.Gly2608=