Canonical Allele Identifier: CA1260981018

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489548_73489563delinsGGTATAAAACTGATTT , CM000664.2:g.73489548_73489563delinsGGTATAAAACTGATTT	GRCh38
NC_000002.11:g.73716675_73716690delinsGGTATAAAACTGATTT , CM000664.1:g.73716675_73716690delinsGGTATAAAACTGATTT	GRCh37
NC_000002.10:g.73570183_73570198delinsGGTATAAAACTGATTT	NCBI36
NG_011690.1:g.108796_108811delinsGGTATAAAACTGATTT , LRG_741:g.108796_108811delinsGGTATAAAACTGATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7294-86_7294-71delinsGGTATAAAACTGATTT	ENSP00000507671.1:n.7294-86_7294-71delinsGGTATAAAACTGATTT
ENST00000682801.1:c.7294-86_7294-71delinsGGTATAAAACTGATTT	ENSP00000507862.1:n.7294-86_7294-71delinsGGTATAAAACTGATTT
ENST00000682859.1:c.7294-86_7294-71delinsGGTATAAAACTGATTT	ENSP00000508222.1:n.7294-86_7294-71delinsGGTATAAAACTGATTT
ENST00000683791.1:c.686-86_686-71delinsGGTATAAAACTGATTT
ENST00000684460.1:c.4746-86_4746-71delinsGGTATAAAACTGATTT
ENST00000684548.1:c.7294-86_7294-71delinsGGTATAAAACTGATTT	ENSP00000507421.1:n.7294-86_7294-71delinsGGTATAAAACTGATTT
ENST00000684590.1:c.1741-86_1741-71delinsGGTATAAAACTGATTT	ENSP00000507376.1:n.1741-86_1741-71delinsGGTATAAAACTGATTT
ENST00000684656.1:c.4746-86_4746-71delinsGGTATAAAACTGATTT
ENST00000613296.6:c.7675-86_7675-71delinsGGTATAAAACTGATTT MANE Select	ENSP00000482968.1:n.7675-86_7675-71delinsGGTATAAAACTGATTT
ENST00000651434.1:c.896-30227_896-30212delinsGGTATAAAACTGATTT
ENST00000423048.5:c.2506-86_2506-71delinsGGTATAAAACTGATTT	ENSP00000399833.1:n.2506-86_2506-71delinsGGTATAAAACTGATTT
ENST00000484298.5:c.7549-86_7549-71delinsGGTATAAAACTGATTT	ENSP00000478155.1:n.7549-86_7549-71delinsGGTATAAAACTGATTT
ENST00000613296.4:c.7675-86_7675-71delinsGGTATAAAACTGATTT	ENSP00000482968.1:n.7675-86_7675-71delinsGGTATAAAACTGATTT
ENST00000614410.4:c.7675-86_7675-71delinsGGTATAAAACTGATTT	ENSP00000479094.1:n.7675-86_7675-71delinsGGTATAAAACTGATTT
ENST00000620466.4:n.1478-86_1478-71delinsGGTATAAAACTGATTT
NM_015120.4:c.7678-86_7678-71delinsGGTATAAAACTGATTT , LRG_741t1:c.7678-86_7678-71delinsGGTATAAAACTGATTT	NP_055935.4:n.7678-86_7678-71delinsGGTATAAAACTGATTT
NM_001378454.1:c.7675-86_7675-71delinsGGTATAAAACTGATTT MANE Select	NP_001365383.1:n.7675-86_7675-71delinsGGTATAAAACTGATTT