Canonical Allele Identifier: CA1261022101

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572903_73572905delinsAAG , CM000664.2:g.73572903_73572905delinsAAG	GRCh38
NC_000002.11:g.73800030_73800032delinsAAG , CM000664.1:g.73800030_73800032delinsAAG	GRCh37
NC_000002.10:g.73653538_73653540delinsAAG	NCBI36
NG_011690.1:g.192151_192153delinsAAG , LRG_741:g.192151_192153delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10645_10647delinsAAG	ENSP00000507671.1:p.Lys3549=
ENST00000682801.1:c.10645_10647delinsAAG	ENSP00000507862.1:p.Lys3549=
ENST00000682859.1:c.10645_10647delinsAAG	ENSP00000508222.1:p.Lys3549=
ENST00000683791.1:c.3731_3733delinsAAG
ENST00000684460.1:c.7926_7928delinsAAG
ENST00000684548.1:c.10645_10647delinsAAG	ENSP00000507421.1:p.Lys3549=
ENST00000684590.1:c.5092_5094delinsAAG	ENSP00000507376.1:p.Lys1698=
ENST00000684656.1:c.7971_7973delinsAAG
ENST00000613296.6:c.11026_11028delinsAAG MANE Select	ENSP00000482968.1:p.Lys3676=
ENST00000651057.1:c.1180_1182delinsAAG	ENSP00000498504.1:p.Lys394=
ENST00000651434.1:c.2382_2384delinsAAG
ENST00000651750.1:c.414_416delinsAAG
ENST00000652487.1:c.2123_2125delinsAAG
ENST00000423048.5:c.4517_4519delinsAAG	ENSP00000399833.1:n.4517_4519delinsAAG
ENST00000484298.5:c.10900_10902delinsAAG	ENSP00000478155.1:p.Lys3634=
ENST00000613296.4:c.11026_11028delinsAAG	ENSP00000482968.1:p.Lys3676=
ENST00000614410.4:c.11026_11028delinsAAG	ENSP00000479094.1:p.Lys3676=
ENST00000620466.4:n.4829_4831delinsAAG
NM_015120.4:c.11029_11031delinsAAG , LRG_741t1:c.11029_11031delinsAAG	NP_055935.4:p.Lys3677=
NM_001378454.1:c.11026_11028delinsAAG MANE Select	NP_001365383.1:p.Lys3676=