Canonical Allele Identifier: CA1261021282

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674959454

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572558_73572560dup , CM000664.2:g.73572558_73572560dup	GRCh38
NC_000002.11:g.73799685_73799687dup , CM000664.1:g.73799685_73799687dup	GRCh37
NC_000002.10:g.73653193_73653195dup	NCBI36
NG_011690.1:g.191806_191808dup , LRG_741:g.191806_191808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10300_10302dup	ENSP00000507671.1:p.Asp3434_Thr3435insAsp
ENST00000682801.1:c.10300_10302dup	ENSP00000507862.1:p.Asp3434_Thr3435insAsp
ENST00000682859.1:c.10300_10302dup	ENSP00000508222.1:p.Asp3434_Thr3435insAsp
ENST00000683791.1:c.3386_3388dup
ENST00000684460.1:c.7581_7583dup
ENST00000684548.1:c.10300_10302dup	ENSP00000507421.1:p.Asp3434_Thr3435insAsp
ENST00000684590.1:c.4747_4749dup	ENSP00000507376.1:p.Asp1583_Thr1584insAsp
ENST00000684656.1:c.7626_7628dup
ENST00000613296.6:c.10681_10683dup MANE Select	ENSP00000482968.1:p.Asp3561_Thr3562insAsp
ENST00000651057.1:c.835_837dup	ENSP00000498504.1:p.Asp279_Thr280insAsp
ENST00000651434.1:c.2037_2039dup
ENST00000651750.1:c.69_71dup
ENST00000652487.1:c.1778_1780dup
ENST00000423048.5:c.4172_4174dup	ENSP00000399833.1:n.4172_4174dup
ENST00000484298.5:c.10555_10557dup	ENSP00000478155.1:p.Asp3519_Thr3520insAsp
ENST00000613296.4:c.10681_10683dup	ENSP00000482968.1:p.Asp3561_Thr3562insAsp
ENST00000614410.4:c.10681_10683dup	ENSP00000479094.1:p.Asp3561_Thr3562insAsp
ENST00000620466.4:n.4484_4486dup
NM_015120.4:c.10684_10686dup , LRG_741t1:c.10684_10686dup	NP_055935.4:p.Asp3562_Thr3563insAsp
NM_001378454.1:c.10681_10683dup MANE Select	NP_001365383.1:p.Asp3561_Thr3562insAsp