Canonical Allele Identifier: CA2586969429

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489975_73489976insAATGCCA , CM000664.2:g.73489975_73489976insAATGCCA	GRCh38
NC_000002.11:g.73717102_73717103insAATGCCA , CM000664.1:g.73717102_73717103insAATGCCA	GRCh37
NC_000002.10:g.73570610_73570611insAATGCCA	NCBI36
NG_011690.1:g.109223_109224insAATGCCA , LRG_741:g.109223_109224insAATGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7635_7636insAATGCCA	ENSP00000507671.1:p.Asp2546AsnfsTer4
ENST00000682801.1:c.7635_7636insAATGCCA	ENSP00000507862.1:p.Asp2546AsnfsTer4
ENST00000682859.1:c.7635_7636insAATGCCA	ENSP00000508222.1:p.Asp2546AsnfsTer4
ENST00000683791.1:c.1027_1028insAATGCCA
ENST00000684460.1:c.5087_5088insAATGCCA
ENST00000684548.1:c.7635_7636insAATGCCA	ENSP00000507421.1:p.Asp2546AsnfsTer4
ENST00000684590.1:c.2082_2083insAATGCCA	ENSP00000507376.1:p.Asp695AsnfsTer4
ENST00000684656.1:c.5087_5088insAATGCCA
ENST00000613296.6:c.8016_8017insAATGCCA MANE Select	ENSP00000482968.1:p.Asp2673AsnfsTer4
ENST00000651434.1:c.896-29800_896-29799insAATGCCA
ENST00000423048.5:c.2847_2848insAATGCCA	ENSP00000399833.1:p.Asp950AsnfsTer4
ENST00000484298.5:c.7890_7891insAATGCCA	ENSP00000478155.1:p.Asp2631AsnfsTer4
ENST00000613296.4:c.8016_8017insAATGCCA	ENSP00000482968.1:p.Asp2673AsnfsTer4
ENST00000614410.4:c.8016_8017insAATGCCA	ENSP00000479094.1:p.Asp2673AsnfsTer4
ENST00000620466.4:n.1819_1820insAATGCCA
NM_015120.4:c.8019_8020insAATGCCA , LRG_741t1:c.8019_8020insAATGCCA	NP_055935.4:p.Asp2674AsnfsTer4
NM_001378454.1:c.8016_8017insAATGCCA MANE Select	NP_001365383.1:p.Asp2673AsnfsTer4