Canonical Allele Identifier: CA2499306990

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489727_73489728insA , CM000664.2:g.73489727_73489728insA	GRCh38
NC_000002.11:g.73716854_73716855insA , CM000664.1:g.73716854_73716855insA	GRCh37
NC_000002.10:g.73570362_73570363insA	NCBI36
NG_011690.1:g.108975_108976insA , LRG_741:g.108975_108976insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7387_7388insA	ENSP00000507671.1:p.Leu2463HisfsTer4
ENST00000682801.1:c.7387_7388insA	ENSP00000507862.1:p.Leu2463HisfsTer4
ENST00000682859.1:c.7387_7388insA	ENSP00000508222.1:p.Leu2463HisfsTer4
ENST00000683791.1:c.779_780insA
ENST00000684460.1:c.4839_4840insA
ENST00000684548.1:c.7387_7388insA	ENSP00000507421.1:p.Leu2463HisfsTer4
ENST00000684590.1:c.1834_1835insA	ENSP00000507376.1:p.Leu612HisfsTer4
ENST00000684656.1:c.4839_4840insA
ENST00000613296.6:c.7768_7769insA MANE Select	ENSP00000482968.1:p.Leu2590HisfsTer4
ENST00000651434.1:c.896-30048_896-30047insA
ENST00000423048.5:c.2599_2600insA	ENSP00000399833.1:p.Leu867HisfsTer4
ENST00000484298.5:c.7642_7643insA	ENSP00000478155.1:p.Leu2548HisfsTer4
ENST00000613296.4:c.7768_7769insA	ENSP00000482968.1:p.Leu2590HisfsTer4
ENST00000614410.4:c.7768_7769insA	ENSP00000479094.1:p.Leu2590HisfsTer4
ENST00000620466.4:n.1571_1572insA
NM_015120.4:c.7771_7772insA , LRG_741t1:c.7771_7772insA	NP_055935.4:p.Leu2591HisfsTer4
NM_001378454.1:c.7768_7769insA MANE Select	NP_001365383.1:p.Leu2590HisfsTer4