Canonical Allele Identifier: CA1715433

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2818496
• ClinVar RCV Id: RCV003610251
• dbSNP Id: rs747205835
• ExAC: 2:73828581 TA / T
• gnomAD v2: 2-73828581-TA-T
• gnomAD v4: 2-73601454-TA-T
• MyVariant Identifiers: chr2:g.73828582del (hg19) ; chr2:g.73601455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601456del , CM000664.2:g.73601456del	GRCh38
NC_000002.11:g.73828583del , CM000664.1:g.73828583del	GRCh37
NC_000002.10:g.73682091del	NCBI36
NG_011690.1:g.220704del , LRG_741:g.220704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+20del	ENSP00000507671.1:n.11733+20del
ENST00000682801.1:c.11167-729del	ENSP00000507862.1:n.11167-729del
ENST00000682859.1:c.11733+20del	ENSP00000508222.1:n.11733+20del
ENST00000683791.1:c.4819+20del
ENST00000684460.1:c.9014+20del
ENST00000684548.1:c.11733+20del	ENSP00000507421.1:n.11733+20del
ENST00000684590.1:c.6180+20del	ENSP00000507376.1:n.6180+20del
ENST00000684656.1:c.9198+20del
ENST00000613296.6:c.12114+20del MANE Select	ENSP00000482968.1:n.12114+20del
ENST00000651057.1:c.2268+20del	ENSP00000498504.1:n.2268+20del
ENST00000651434.1:c.3470+20del
ENST00000651750.1:c.1260+575del
ENST00000652487.1:c.3285+20del
ENST00000464408.3:n.289+20del
ENST00000484298.5:c.11988+20del	ENSP00000478155.1:n.11988+20del
ENST00000613296.4:c.12114+20del	ENSP00000482968.1:n.12114+20del
ENST00000620466.4:n.5917+20del
NM_015120.4:c.12117+20del , LRG_741t1:c.12117+20del	NP_055935.4:n.12117+20del
NM_001378454.1:c.12114+20del MANE Select	NP_001365383.1:n.12114+20del