Canonical Allele Identifier: CA2580068177

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2133588
• ClinVar RCV Id: RCV003041006

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601362_73601363del , CM000664.2:g.73601362_73601363del	GRCh38
NC_000002.11:g.73828489_73828490del , CM000664.1:g.73828489_73828490del	GRCh37
NC_000002.10:g.73681997_73681998del	NCBI36
NG_011690.1:g.220610_220611del , LRG_741:g.220610_220611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11659_11660del	ENSP00000507671.1:p.Arg3887GlyfsTer?
ENST00000682801.1:c.11167-823_11167-822del	ENSP00000507862.1:n.11167-823_11167-822del
ENST00000682859.1:c.11659_11660del	ENSP00000508222.1:p.Arg3887GlyfsTer?
ENST00000683791.1:c.4745_4746del
ENST00000684460.1:c.8940_8941del
ENST00000684548.1:c.11659_11660del	ENSP00000507421.1:p.Arg3887GlyfsTer?
ENST00000684590.1:c.6106_6107del	ENSP00000507376.1:p.Arg2036GlyfsTer?
ENST00000684656.1:c.9124_9125del
ENST00000613296.6:c.12040_12041del MANE Select	ENSP00000482968.1:p.Arg4014GlyfsTer?
ENST00000651057.1:c.2194_2195del	ENSP00000498504.1:p.Arg732GlyfsTer?
ENST00000651434.1:c.3396_3397del
ENST00000651750.1:c.1260+481_1260+482del
ENST00000652487.1:c.3211_3212del
ENST00000464408.3:n.215_216del
ENST00000484298.5:c.11914_11915del	ENSP00000478155.1:p.Arg3972GlyfsTer?
ENST00000613296.4:c.12040_12041del	ENSP00000482968.1:p.Arg4014GlyfsTer?
ENST00000620466.4:n.5843_5844del
NM_015120.4:c.12043_12044del , LRG_741t1:c.12043_12044del	NP_055935.4:p.Arg4015GlyfsTer?
NM_001378454.1:c.12040_12041del MANE Select	NP_001365383.1:p.Arg4014GlyfsTer?