Canonical Allele Identifier: CA2499216266

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73599499_73599502dup , CM000664.2:g.73599499_73599502dup	GRCh38
NC_000002.11:g.73826626_73826629dup , CM000664.1:g.73826626_73826629dup	GRCh37
NC_000002.10:g.73680134_73680137dup	NCBI36
NG_011690.1:g.218747_218750dup , LRG_741:g.218747_218750dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11646_11649dup MANE Select	NP_001365383.1:p.Asn3884ValfsTer9
ENST00000613296.6:c.11646_11649dup MANE Select	ENSP00000482968.1:p.Asn3884ValfsTer9
NM_015120.4:c.11649_11652dup , LRG_741t1:c.11649_11652dup	NP_055935.4:p.Asn3885ValfsTer9
ENST00000484298.5:c.11520_11523dup	ENSP00000478155.1:p.Asn3842ValfsTer9
ENST00000613296.4:c.11646_11649dup	ENSP00000482968.1:p.Asn3884ValfsTer9
ENST00000620466.4:n.5449_5452dup
ENST00000651057.1:c.1800_1803dup	ENSP00000498504.1:p.Asn602ValfsTer9
ENST00000651434.1:c.3002_3005dup
ENST00000651750.1:c.1034_1037dup
ENST00000652487.1:c.2817_2820dup
ENST00000682565.1:c.11265_11268dup	ENSP00000507671.1:p.Asn3757ValfsTer9
ENST00000682801.1:c.11167-2686_11167-2683dup	ENSP00000507862.1:n.11167-2686_11167-2683dup
ENST00000682859.1:c.11265_11268dup	ENSP00000508222.1:p.Asn3757ValfsTer9
ENST00000683791.1:c.4351_4354dup
ENST00000684460.1:c.8546_8549dup
ENST00000684548.1:c.11265_11268dup	ENSP00000507421.1:p.Asn3757ValfsTer9
ENST00000684590.1:c.5712_5715dup	ENSP00000507376.1:p.Asn1906ValfsTer9
ENST00000684656.1:c.8730_8733dup