Canonical Allele Identifier: CA1261022099

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572902_73572905delinsAAAG , CM000664.2:g.73572902_73572905delinsAAAG	GRCh38
NC_000002.11:g.73800029_73800032delinsAAAG , CM000664.1:g.73800029_73800032delinsAAAG	GRCh37
NC_000002.10:g.73653537_73653540delinsAAAG	NCBI36
NG_011690.1:g.192150_192153delinsAAAG , LRG_741:g.192150_192153delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10644_10647delinsAAAG	ENSP00000507671.1:p.Lys3548=
ENST00000682801.1:c.10644_10647delinsAAAG	ENSP00000507862.1:p.Lys3548=
ENST00000682859.1:c.10644_10647delinsAAAG	ENSP00000508222.1:p.Lys3548=
ENST00000683791.1:c.3730_3733delinsAAAG
ENST00000684460.1:c.7925_7928delinsAAAG
ENST00000684548.1:c.10644_10647delinsAAAG	ENSP00000507421.1:p.Lys3548=
ENST00000684590.1:c.5091_5094delinsAAAG	ENSP00000507376.1:p.Lys1697=
ENST00000684656.1:c.7970_7973delinsAAAG
ENST00000613296.6:c.11025_11028delinsAAAG MANE Select	ENSP00000482968.1:p.Lys3675=
ENST00000651057.1:c.1179_1182delinsAAAG	ENSP00000498504.1:p.Lys393=
ENST00000651434.1:c.2381_2384delinsAAAG
ENST00000651750.1:c.413_416delinsAAAG
ENST00000652487.1:c.2122_2125delinsAAAG
ENST00000423048.5:c.4516_4519delinsAAAG	ENSP00000399833.1:n.4516_4519delinsAAAG
ENST00000484298.5:c.10899_10902delinsAAAG	ENSP00000478155.1:p.Lys3633=
ENST00000613296.4:c.11025_11028delinsAAAG	ENSP00000482968.1:p.Lys3675=
ENST00000614410.4:c.11025_11028delinsAAAG	ENSP00000479094.1:p.Lys3675=
ENST00000620466.4:n.4828_4831delinsAAAG
NM_015120.4:c.11028_11031delinsAAAG , LRG_741t1:c.11028_11031delinsAAAG	NP_055935.4:p.Lys3676=
NM_001378454.1:c.11025_11028delinsAAAG MANE Select	NP_001365383.1:p.Lys3675=