Canonical Allele Identifier: CA1261021988

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572824_73572826delinsTAC , CM000664.2:g.73572824_73572826delinsTAC	GRCh38
NC_000002.11:g.73799951_73799953delinsTAC , CM000664.1:g.73799951_73799953delinsTAC	GRCh37
NC_000002.10:g.73653459_73653461delinsTAC	NCBI36
NG_011690.1:g.192072_192074delinsTAC , LRG_741:g.192072_192074delinsTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10566_10568delinsTAC	ENSP00000507671.1:p.Ser3522=
ENST00000682801.1:c.10566_10568delinsTAC	ENSP00000507862.1:p.Ser3522=
ENST00000682859.1:c.10566_10568delinsTAC	ENSP00000508222.1:p.Ser3522=
ENST00000683791.1:c.3652_3654delinsTAC
ENST00000684460.1:c.7847_7849delinsTAC
ENST00000684548.1:c.10566_10568delinsTAC	ENSP00000507421.1:p.Ser3522=
ENST00000684590.1:c.5013_5015delinsTAC	ENSP00000507376.1:p.Ser1671=
ENST00000684656.1:c.7892_7894delinsTAC
ENST00000613296.6:c.10947_10949delinsTAC MANE Select	ENSP00000482968.1:p.Ser3649=
ENST00000651057.1:c.1101_1103delinsTAC	ENSP00000498504.1:p.Ser367=
ENST00000651434.1:c.2303_2305delinsTAC
ENST00000651750.1:c.335_337delinsTAC
ENST00000652487.1:c.2044_2046delinsTAC
ENST00000423048.5:c.4438_4440delinsTAC	ENSP00000399833.1:n.4438_4440delinsTAC
ENST00000484298.5:c.10821_10823delinsTAC	ENSP00000478155.1:p.Ser3607=
ENST00000613296.4:c.10947_10949delinsTAC	ENSP00000482968.1:p.Ser3649=
ENST00000614410.4:c.10947_10949delinsTAC	ENSP00000479094.1:p.Ser3649=
ENST00000620466.4:n.4750_4752delinsTAC
NM_015120.4:c.10950_10952delinsTAC , LRG_741t1:c.10950_10952delinsTAC	NP_055935.4:p.Ser3650=
NM_001378454.1:c.10947_10949delinsTAC MANE Select	NP_001365383.1:p.Ser3649=