Canonical Allele Identifier: CA658822845

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 552320
• ClinVar RCV Id: RCV000667556
• dbSNP Id: rs1553421741
• MyVariant Identifiers: chr2:g.73601405_73601408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601405_73601408del , CM000664.2:g.73601405_73601408del	GRCh38
NC_000002.11:g.73828532_73828535del , CM000664.1:g.73828532_73828535del	GRCh37
NC_000002.10:g.73682040_73682043del	NCBI36
NG_011690.1:g.220653_220656del , LRG_741:g.220653_220656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11702_11705del	ENSP00000507671.1:p.Leu3901ArgfsTer5
ENST00000682801.1:c.11167-780_11167-777del	ENSP00000507862.1:n.11167-780_11167-777del
ENST00000682859.1:c.11702_11705del	ENSP00000508222.1:p.Leu3901ArgfsTer5
ENST00000683791.1:c.4788_4791del
ENST00000684460.1:c.8983_8986del
ENST00000684548.1:c.11702_11705del	ENSP00000507421.1:p.Leu3901ArgfsTer5
ENST00000684590.1:c.6149_6152del	ENSP00000507376.1:p.Leu2050ArgfsTer5
ENST00000684656.1:c.9167_9170del
ENST00000613296.6:c.12083_12086del MANE Select	ENSP00000482968.1:p.Leu4028ArgfsTer5
ENST00000651057.1:c.2237_2240del	ENSP00000498504.1:p.Leu746ArgfsTer5
ENST00000651434.1:c.3439_3442del
ENST00000651750.1:c.1260+524_1260+527del
ENST00000652487.1:c.3254_3257del
ENST00000464408.3:n.258_261del
ENST00000484298.5:c.11957_11960del	ENSP00000478155.1:p.Leu3986ArgfsTer5
ENST00000613296.4:c.12083_12086del	ENSP00000482968.1:p.Leu4028ArgfsTer5
ENST00000620466.4:n.5886_5889del
NM_015120.4:c.12086_12089del , LRG_741t1:c.12086_12089del	NP_055935.4:p.Leu4029ArgfsTer5
NM_001378454.1:c.12083_12086del MANE Select	NP_001365383.1:p.Leu4028ArgfsTer5