Canonical Allele Identifier: CA2750467830

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572850_73572874del , CM000664.2:g.73572850_73572874del	GRCh38
NC_000002.11:g.73799977_73800001del , CM000664.1:g.73799977_73800001del	GRCh37
NC_000002.10:g.73653485_73653509del	NCBI36
NG_011690.1:g.192098_192122del , LRG_741:g.192098_192122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10592_10616del	ENSP00000507671.1:p.Arg3531HisfsTer17
ENST00000682801.1:c.10592_10616del	ENSP00000507862.1:p.Arg3531HisfsTer17
ENST00000682859.1:c.10592_10616del	ENSP00000508222.1:p.Arg3531HisfsTer17
ENST00000683791.1:c.3678_3702del
ENST00000684460.1:c.7873_7897del
ENST00000684548.1:c.10592_10616del	ENSP00000507421.1:p.Arg3531HisfsTer17
ENST00000684590.1:c.5039_5063del	ENSP00000507376.1:p.Arg1680HisfsTer17
ENST00000684656.1:c.7918_7942del
ENST00000613296.6:c.10973_10997del MANE Select	ENSP00000482968.1:p.Arg3658HisfsTer17
ENST00000651057.1:c.1127_1151del	ENSP00000498504.1:p.Arg376HisfsTer17
ENST00000651434.1:c.2329_2353del
ENST00000651750.1:c.361_385del
ENST00000652487.1:c.2070_2094del
ENST00000423048.5:c.4464_4488del	ENSP00000399833.1:n.4464_4488del
ENST00000484298.5:c.10847_10871del	ENSP00000478155.1:p.Arg3616HisfsTer17
ENST00000613296.4:c.10973_10997del	ENSP00000482968.1:p.Arg3658HisfsTer17
ENST00000614410.4:c.10973_10997del	ENSP00000479094.1:p.Arg3658HisfsTer17
ENST00000620466.4:n.4776_4800del
NM_015120.4:c.10976_11000del , LRG_741t1:c.10976_11000del	NP_055935.4:p.Arg3659HisfsTer17
NM_001378454.1:c.10973_10997del MANE Select	NP_001365383.1:p.Arg3658HisfsTer17