Canonical Allele Identifier: CA1261034070

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601407_73601419delinsCTGAGGCCATTTG , CM000664.2:g.73601407_73601419delinsCTGAGGCCATTTG	GRCh38
NC_000002.11:g.73828534_73828546delinsCTGAGGCCATTTG , CM000664.1:g.73828534_73828546delinsCTGAGGCCATTTG	GRCh37
NC_000002.10:g.73682042_73682054delinsCTGAGGCCATTTG	NCBI36
NG_011690.1:g.220655_220667delinsCTGAGGCCATTTG , LRG_741:g.220655_220667delinsCTGAGGCCATTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11704_11716delinsCTGAGGCCATTTG	ENSP00000507671.1:p.Leu3902=
ENST00000682801.1:c.11167-778_11167-766delinsCTGAGGCCATTTG	ENSP00000507862.1:n.11167-778_11167-766delinsCTGAGGCCATTTG
ENST00000682859.1:c.11704_11716delinsCTGAGGCCATTTG	ENSP00000508222.1:p.Leu3902=
ENST00000683791.1:c.4790_4802delinsCTGAGGCCATTTG
ENST00000684460.1:c.8985_8997delinsCTGAGGCCATTTG
ENST00000684548.1:c.11704_11716delinsCTGAGGCCATTTG	ENSP00000507421.1:p.Leu3902=
ENST00000684590.1:c.6151_6163delinsCTGAGGCCATTTG	ENSP00000507376.1:p.Leu2051=
ENST00000684656.1:c.9169_9181delinsCTGAGGCCATTTG
ENST00000613296.6:c.12085_12097delinsCTGAGGCCATTTG MANE Select	ENSP00000482968.1:p.Leu4029=
ENST00000651057.1:c.2239_2251delinsCTGAGGCCATTTG	ENSP00000498504.1:p.Leu747=
ENST00000651434.1:c.3441_3453delinsCTGAGGCCATTTG
ENST00000651750.1:c.1260+526_1260+538delinsCTGAGGCCATTTG
ENST00000652487.1:c.3256_3268delinsCTGAGGCCATTTG
ENST00000464408.3:n.260_272delinsCTGAGGCCATTTG
ENST00000484298.5:c.11959_11971delinsCTGAGGCCATTTG	ENSP00000478155.1:p.Leu3987=
ENST00000613296.4:c.12085_12097delinsCTGAGGCCATTTG	ENSP00000482968.1:p.Leu4029=
ENST00000620466.4:n.5888_5900delinsCTGAGGCCATTTG
NM_015120.4:c.12088_12100delinsCTGAGGCCATTTG , LRG_741t1:c.12088_12100delinsCTGAGGCCATTTG	NP_055935.4:p.Leu4030=
NM_001378454.1:c.12085_12097delinsCTGAGGCCATTTG MANE Select	NP_001365383.1:p.Leu4029=