Canonical Allele Identifier: CA2533181878

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572499_73572500insACGGGTAGTAT , CM000664.2:g.73572499_73572500insACGGGTAGTAT	GRCh38
NC_000002.11:g.73799626_73799627insACGGGTAGTAT , CM000664.1:g.73799626_73799627insACGGGTAGTAT	GRCh37
NC_000002.10:g.73653134_73653135insACGGGTAGTAT	NCBI36
NG_011690.1:g.191747_191748insACGGGTAGTAT , LRG_741:g.191747_191748insACGGGTAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10241_10242insACGGGTAGTAT	ENSP00000507671.1:p.Asp3414GlufsTer9
ENST00000682801.1:c.10241_10242insACGGGTAGTAT	ENSP00000507862.1:p.Asp3414GlufsTer9
ENST00000682859.1:c.10241_10242insACGGGTAGTAT	ENSP00000508222.1:p.Asp3414GlufsTer9
ENST00000683791.1:c.3327_3328insACGGGTAGTAT
ENST00000684460.1:c.7522_7523insACGGGTAGTAT
ENST00000684548.1:c.10241_10242insACGGGTAGTAT	ENSP00000507421.1:p.Asp3414GlufsTer9
ENST00000684590.1:c.4688_4689insACGGGTAGTAT	ENSP00000507376.1:p.Asp1563GlufsTer9
ENST00000684656.1:c.7567_7568insACGGGTAGTAT
ENST00000613296.6:c.10622_10623insACGGGTAGTAT MANE Select	ENSP00000482968.1:p.Asp3541GlufsTer9
ENST00000651057.1:c.776_777insACGGGTAGTAT	ENSP00000498504.1:p.Asp259GlufsTer9
ENST00000651434.1:c.1978_1979insACGGGTAGTAT
ENST00000651750.1:c.10_11insACGGGTAGTAT
ENST00000652487.1:c.1719_1720insACGGGTAGTAT
ENST00000423048.5:c.4113_4114insACGGGTAGTAT	ENSP00000399833.1:n.4113_4114insACGGGTAGTAT
ENST00000484298.5:c.10496_10497insACGGGTAGTAT	ENSP00000478155.1:p.Asp3499GlufsTer9
ENST00000613296.4:c.10622_10623insACGGGTAGTAT	ENSP00000482968.1:p.Asp3541GlufsTer9
ENST00000614410.4:c.10622_10623insACGGGTAGTAT	ENSP00000479094.1:p.Asp3541GlufsTer9
ENST00000620466.4:n.4425_4426insACGGGTAGTAT
NM_015120.4:c.10625_10626insACGGGTAGTAT , LRG_741t1:c.10625_10626insACGGGTAGTAT	NP_055935.4:p.Asp3542GlufsTer9
NM_001378454.1:c.10622_10623insACGGGTAGTAT MANE Select	NP_001365383.1:p.Asp3541GlufsTer9