Canonical Allele Identifier: CA2577005277

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601133_73601134dup , CM000664.2:g.73601133_73601134dup	GRCh38
NC_000002.11:g.73828260_73828261dup , CM000664.1:g.73828260_73828261dup	GRCh37
NC_000002.10:g.73681768_73681769dup	NCBI36
NG_011690.1:g.220381_220382dup , LRG_741:g.220381_220382dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-62_11492-61dup	ENSP00000507671.1:n.11492-62_11492-61dup
ENST00000682801.1:c.11167-1052_11167-1051dup	ENSP00000507862.1:n.11167-1052_11167-1051dup
ENST00000682859.1:c.11492-62_11492-61dup	ENSP00000508222.1:n.11492-62_11492-61dup
ENST00000683791.1:c.4578-62_4578-61dup
ENST00000684460.1:c.8773-62_8773-61dup
ENST00000684548.1:c.11492-62_11492-61dup	ENSP00000507421.1:n.11492-62_11492-61dup
ENST00000684590.1:c.5939-62_5939-61dup	ENSP00000507376.1:n.5939-62_5939-61dup
ENST00000684656.1:c.8957-62_8957-61dup
ENST00000613296.6:c.11873-62_11873-61dup MANE Select	ENSP00000482968.1:n.11873-62_11873-61dup
ENST00000651057.1:c.2027-62_2027-61dup	ENSP00000498504.1:n.2027-62_2027-61dup
ENST00000651434.1:c.3229-62_3229-61dup
ENST00000651750.1:c.1260+252_1260+253dup
ENST00000652487.1:c.3044-62_3044-61dup
ENST00000464408.3:n.48-62_48-61dup
ENST00000484298.5:c.11747-62_11747-61dup	ENSP00000478155.1:n.11747-62_11747-61dup
ENST00000613296.4:c.11873-62_11873-61dup	ENSP00000482968.1:n.11873-62_11873-61dup
ENST00000620466.4:n.5676-62_5676-61dup
NM_015120.4:c.11876-62_11876-61dup , LRG_741t1:c.11876-62_11876-61dup	NP_055935.4:n.11876-62_11876-61dup
NM_001378454.1:c.11873-62_11873-61dup MANE Select	NP_001365383.1:n.11873-62_11873-61dup