Canonical Allele Identifier: CA2573135757

Gene: ALMS1

Linked Data

• dbSNP Id: rs2103890394

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490000_73490001insATTAGAATTAG , CM000664.2:g.73490000_73490001insATTAGAATTAG	GRCh38
NC_000002.11:g.73717127_73717128insATTAGAATTAG , CM000664.1:g.73717127_73717128insATTAGAATTAG	GRCh37
NC_000002.10:g.73570635_73570636insATTAGAATTAG	NCBI36
NG_011690.1:g.109248_109249insATTAGAATTAG , LRG_741:g.109248_109249insATTAGAATTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7660_7661insATTAGAATTAG	ENSP00000507671.1:p.Ser2554TyrfsTer2
ENST00000682801.1:c.7660_7661insATTAGAATTAG	ENSP00000507862.1:p.Ser2554TyrfsTer2
ENST00000682859.1:c.7660_7661insATTAGAATTAG	ENSP00000508222.1:p.Ser2554TyrfsTer2
ENST00000683791.1:c.1052_1053insATTAGAATTAG
ENST00000684460.1:c.5112_5113insATTAGAATTAG
ENST00000684548.1:c.7660_7661insATTAGAATTAG	ENSP00000507421.1:p.Ser2554TyrfsTer2
ENST00000684590.1:c.2107_2108insATTAGAATTAG	ENSP00000507376.1:p.Ser703TyrfsTer2
ENST00000684656.1:c.5112_5113insATTAGAATTAG
ENST00000613296.6:c.8041_8042insATTAGAATTAG MANE Select	ENSP00000482968.1:p.Ser2681TyrfsTer2
ENST00000651434.1:c.896-29775_896-29774insATTAGAATTAG
ENST00000423048.5:c.2872_2873insATTAGAATTAG	ENSP00000399833.1:p.Ser958TyrfsTer2
ENST00000484298.5:c.7915_7916insATTAGAATTAG	ENSP00000478155.1:p.Ser2639TyrfsTer2
ENST00000613296.4:c.8041_8042insATTAGAATTAG	ENSP00000482968.1:p.Ser2681TyrfsTer2
ENST00000614410.4:c.8041_8042insATTAGAATTAG	ENSP00000479094.1:p.Ser2681TyrfsTer2
ENST00000620466.4:n.1844_1845insATTAGAATTAG
NM_015120.4:c.8044_8045insATTAGAATTAG , LRG_741t1:c.8044_8045insATTAGAATTAG	NP_055935.4:p.Ser2682TyrfsTer2
NM_001378454.1:c.8041_8042insATTAGAATTAG MANE Select	NP_001365383.1:p.Ser2681TyrfsTer2