Canonical Allele Identifier: CA1260981101

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489682_73489683delinsAG , CM000664.2:g.73489682_73489683delinsAG	GRCh38
NC_000002.11:g.73716809_73716810delinsAG , CM000664.1:g.73716809_73716810delinsAG	GRCh37
NC_000002.10:g.73570317_73570318delinsAG	NCBI36
NG_011690.1:g.108930_108931delinsAG , LRG_741:g.108930_108931delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7342_7343delinsAG	ENSP00000507671.1:p.Ser2448=
ENST00000682801.1:c.7342_7343delinsAG	ENSP00000507862.1:p.Ser2448=
ENST00000682859.1:c.7342_7343delinsAG	ENSP00000508222.1:p.Ser2448=
ENST00000683791.1:c.734_735delinsAG
ENST00000684460.1:c.4794_4795delinsAG
ENST00000684548.1:c.7342_7343delinsAG	ENSP00000507421.1:p.Ser2448=
ENST00000684590.1:c.1789_1790delinsAG	ENSP00000507376.1:p.Ser597=
ENST00000684656.1:c.4794_4795delinsAG
ENST00000613296.6:c.7723_7724delinsAG MANE Select	ENSP00000482968.1:p.Ser2575=
ENST00000651434.1:c.896-30093_896-30092delinsAG
ENST00000423048.5:c.2554_2555delinsAG	ENSP00000399833.1:p.Ser852=
ENST00000484298.5:c.7597_7598delinsAG	ENSP00000478155.1:p.Ser2533=
ENST00000613296.4:c.7723_7724delinsAG	ENSP00000482968.1:p.Ser2575=
ENST00000614410.4:c.7723_7724delinsAG	ENSP00000479094.1:p.Ser2575=
ENST00000620466.4:n.1526_1527delinsAG
NM_015120.4:c.7726_7727delinsAG , LRG_741t1:c.7726_7727delinsAG	NP_055935.4:p.Ser2576=
NM_001378454.1:c.7723_7724delinsAG MANE Select	NP_001365383.1:p.Ser2575=