Canonical Allele Identifier: CA2838227685

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448296_73448297insCCT , CM000664.2:g.73448296_73448297insCCT	GRCh38
NC_000002.11:g.73675423_73675424insCCT , CM000664.1:g.73675423_73675424insCCT	GRCh37
NC_000002.10:g.73528931_73528932insCCT	NCBI36
NG_011690.1:g.67544_67545insCCT , LRG_741:g.67544_67545insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.1388_1389insCCT	ENSP00000507671.1:p.Pro463_Asp464insLeu
ENST00000682801.1:c.1388_1389insCCT	ENSP00000507862.1:p.Pro463_Asp464insLeu
ENST00000682859.1:c.1388_1389insCCT	ENSP00000508222.1:p.Pro463_Asp464insLeu
ENST00000683791.1:c.685+16005_685+16006insCCT
ENST00000684548.1:c.1388_1389insCCT	ENSP00000507421.1:p.Pro463_Asp464insLeu
ENST00000613296.6:c.1769_1770insCCT MANE Select	ENSP00000482968.1:p.Pro590_Asp591insLeu
ENST00000484298.5:c.1643_1644insCCT	ENSP00000478155.1:p.Pro548_Asp549insLeu
ENST00000613296.4:c.1769_1770insCCT	ENSP00000482968.1:p.Pro590_Asp591insLeu
ENST00000614410.4:c.1769_1770insCCT	ENSP00000479094.1:p.Pro590_Asp591insLeu
NM_015120.4:c.1772_1773insCCT , LRG_741t1:c.1772_1773insCCT	NP_055935.4:p.Pro591_Asp592insLeu
NM_001378454.1:c.1769_1770insCCT MANE Select	NP_001365383.1:p.Pro590_Asp591insLeu