Canonical Allele Identifier: CA1261033948

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601362_73601363delinsCG , CM000664.2:g.73601362_73601363delinsCG	GRCh38
NC_000002.11:g.73828489_73828490delinsCG , CM000664.1:g.73828489_73828490delinsCG	GRCh37
NC_000002.10:g.73681997_73681998delinsCG	NCBI36
NG_011690.1:g.220610_220611delinsCG , LRG_741:g.220610_220611delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11659_11660delinsCG	ENSP00000507671.1:p.Arg3887=
ENST00000682801.1:c.11167-823_11167-822delinsCG	ENSP00000507862.1:n.11167-823_11167-822delinsCG
ENST00000682859.1:c.11659_11660delinsCG	ENSP00000508222.1:p.Arg3887=
ENST00000683791.1:c.4745_4746delinsCG
ENST00000684460.1:c.8940_8941delinsCG
ENST00000684548.1:c.11659_11660delinsCG	ENSP00000507421.1:p.Arg3887=
ENST00000684590.1:c.6106_6107delinsCG	ENSP00000507376.1:p.Arg2036=
ENST00000684656.1:c.9124_9125delinsCG
ENST00000613296.6:c.12040_12041delinsCG MANE Select	ENSP00000482968.1:p.Arg4014=
ENST00000651057.1:c.2194_2195delinsCG	ENSP00000498504.1:p.Arg732=
ENST00000651434.1:c.3396_3397delinsCG
ENST00000651750.1:c.1260+481_1260+482delinsCG
ENST00000652487.1:c.3211_3212delinsCG
ENST00000464408.3:n.215_216delinsCG
ENST00000484298.5:c.11914_11915delinsCG	ENSP00000478155.1:p.Arg3972=
ENST00000613296.4:c.12040_12041delinsCG	ENSP00000482968.1:p.Arg4014=
ENST00000620466.4:n.5843_5844delinsCG
NM_015120.4:c.12043_12044delinsCG , LRG_741t1:c.12043_12044delinsCG	NP_055935.4:p.Arg4015=
NM_001378454.1:c.12040_12041delinsCG MANE Select	NP_001365383.1:p.Arg4014=