Canonical Allele Identifier: CA1261021727

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572719_73572720delinsGC , CM000664.2:g.73572719_73572720delinsGC	GRCh38
NC_000002.11:g.73799846_73799847delinsGC , CM000664.1:g.73799846_73799847delinsGC	GRCh37
NC_000002.10:g.73653354_73653355delinsGC	NCBI36
NG_011690.1:g.191967_191968delinsGC , LRG_741:g.191967_191968delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10461_10462delinsGC	ENSP00000507671.1:p.Gln3487=
ENST00000682801.1:c.10461_10462delinsGC	ENSP00000507862.1:p.Gln3487=
ENST00000682859.1:c.10461_10462delinsGC	ENSP00000508222.1:p.Gln3487=
ENST00000683791.1:c.3547_3548delinsGC
ENST00000684460.1:c.7742_7743delinsGC
ENST00000684548.1:c.10461_10462delinsGC	ENSP00000507421.1:p.Gln3487=
ENST00000684590.1:c.4908_4909delinsGC	ENSP00000507376.1:p.Gln1636=
ENST00000684656.1:c.7787_7788delinsGC
ENST00000613296.6:c.10842_10843delinsGC MANE Select	ENSP00000482968.1:p.Gln3614=
ENST00000651057.1:c.996_997delinsGC	ENSP00000498504.1:p.Gln332=
ENST00000651434.1:c.2198_2199delinsGC
ENST00000651750.1:c.230_231delinsGC
ENST00000652487.1:c.1939_1940delinsGC
ENST00000423048.5:c.4333_4334delinsGC	ENSP00000399833.1:n.4333_4334delinsGC
ENST00000484298.5:c.10716_10717delinsGC	ENSP00000478155.1:p.Gln3572=
ENST00000613296.4:c.10842_10843delinsGC	ENSP00000482968.1:p.Gln3614=
ENST00000614410.4:c.10842_10843delinsGC	ENSP00000479094.1:p.Gln3614=
ENST00000620466.4:n.4645_4646delinsGC
NM_015120.4:c.10845_10846delinsGC , LRG_741t1:c.10845_10846delinsGC	NP_055935.4:p.Gln3615=
NM_001378454.1:c.10842_10843delinsGC MANE Select	NP_001365383.1:p.Gln3614=