Canonical Allele Identifier: CA1260981119

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489714_73489716delinsATG , CM000664.2:g.73489714_73489716delinsATG	GRCh38
NC_000002.11:g.73716841_73716843delinsATG , CM000664.1:g.73716841_73716843delinsATG	GRCh37
NC_000002.10:g.73570349_73570351delinsATG	NCBI36
NG_011690.1:g.108962_108964delinsATG , LRG_741:g.108962_108964delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7374_7376delinsATG	ENSP00000507671.1:p.Gly2458=
ENST00000682801.1:c.7374_7376delinsATG	ENSP00000507862.1:p.Gly2458=
ENST00000682859.1:c.7374_7376delinsATG	ENSP00000508222.1:p.Gly2458=
ENST00000683791.1:c.766_768delinsATG
ENST00000684460.1:c.4826_4828delinsATG
ENST00000684548.1:c.7374_7376delinsATG	ENSP00000507421.1:p.Gly2458=
ENST00000684590.1:c.1821_1823delinsATG	ENSP00000507376.1:p.Gly607=
ENST00000684656.1:c.4826_4828delinsATG
ENST00000613296.6:c.7755_7757delinsATG MANE Select	ENSP00000482968.1:p.Gly2585=
ENST00000651434.1:c.896-30061_896-30059delinsATG
ENST00000423048.5:c.2586_2588delinsATG	ENSP00000399833.1:p.Gly862=
ENST00000484298.5:c.7629_7631delinsATG	ENSP00000478155.1:p.Gly2543=
ENST00000613296.4:c.7755_7757delinsATG	ENSP00000482968.1:p.Gly2585=
ENST00000614410.4:c.7755_7757delinsATG	ENSP00000479094.1:p.Gly2585=
ENST00000620466.4:n.1558_1560delinsATG
NM_015120.4:c.7758_7760delinsATG , LRG_741t1:c.7758_7760delinsATG	NP_055935.4:p.Gly2586=
NM_001378454.1:c.7755_7757delinsATG MANE Select	NP_001365383.1:p.Gly2585=