Canonical Allele Identifier: CA1260981806

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490272_73490275delinsTTCA , CM000664.2:g.73490272_73490275delinsTTCA	GRCh38
NC_000002.11:g.73717399_73717402delinsTTCA , CM000664.1:g.73717399_73717402delinsTTCA	GRCh37
NC_000002.10:g.73570907_73570910delinsTTCA	NCBI36
NG_011690.1:g.109520_109523delinsTTCA , LRG_741:g.109520_109523delinsTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7932_7935delinsTTCA	ENSP00000507671.1:p.Pro2644=
ENST00000682801.1:c.7932_7935delinsTTCA	ENSP00000507862.1:p.Pro2644=
ENST00000682859.1:c.7932_7935delinsTTCA	ENSP00000508222.1:p.Pro2644=
ENST00000683791.1:c.1324_1327delinsTTCA
ENST00000684460.1:c.5384_5387delinsTTCA
ENST00000684548.1:c.7932_7935delinsTTCA	ENSP00000507421.1:p.Pro2644=
ENST00000684590.1:c.2379_2382delinsTTCA	ENSP00000507376.1:p.Pro793=
ENST00000684656.1:c.5384_5387delinsTTCA
ENST00000613296.6:c.8313_8316delinsTTCA MANE Select	ENSP00000482968.1:p.Pro2771=
ENST00000651434.1:c.896-29503_896-29500delinsTTCA
ENST00000423048.5:c.3030+114_3030+117delinsTTCA	ENSP00000399833.1:n.3030+114_3030+117delinsTTCA
ENST00000484298.5:c.8187_8190delinsTTCA	ENSP00000478155.1:p.Pro2729=
ENST00000613296.4:c.8313_8316delinsTTCA	ENSP00000482968.1:p.Pro2771=
ENST00000614410.4:c.8313_8316delinsTTCA	ENSP00000479094.1:p.Pro2771=
ENST00000620466.4:n.2116_2119delinsTTCA
NM_015120.4:c.8316_8319delinsTTCA , LRG_741t1:c.8316_8319delinsTTCA	NP_055935.4:p.Pro2772=
NM_001378454.1:c.8313_8316delinsTTCA MANE Select	NP_001365383.1:p.Pro2771=