Canonical Allele Identifier: CA2580068174

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2192330
• ClinVar RCV Id: RCV002633153

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601182_73601183delinsAC , CM000664.2:g.73601182_73601183delinsAC	GRCh38
NC_000002.11:g.73828309_73828310delinsAC , CM000664.1:g.73828309_73828310delinsAC	GRCh37
NC_000002.10:g.73681817_73681818delinsAC	NCBI36
NG_011690.1:g.220430_220431delinsAC , LRG_741:g.220430_220431delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-13_11492-12delinsAC	ENSP00000507671.1:n.11492-13_11492-12delinsAC
ENST00000682801.1:c.11167-1003_11167-1002delinsAC	ENSP00000507862.1:n.11167-1003_11167-1002delinsAC
ENST00000682859.1:c.11492-13_11492-12delinsAC	ENSP00000508222.1:n.11492-13_11492-12delinsAC
ENST00000683791.1:c.4578-13_4578-12delinsAC
ENST00000684460.1:c.8773-13_8773-12delinsAC
ENST00000684548.1:c.11492-13_11492-12delinsAC	ENSP00000507421.1:n.11492-13_11492-12delinsAC
ENST00000684590.1:c.5939-13_5939-12delinsAC	ENSP00000507376.1:n.5939-13_5939-12delinsAC
ENST00000684656.1:c.8957-13_8957-12delinsAC
ENST00000613296.6:c.11873-13_11873-12delinsAC MANE Select	ENSP00000482968.1:n.11873-13_11873-12delinsAC
ENST00000651057.1:c.2027-13_2027-12delinsAC	ENSP00000498504.1:n.2027-13_2027-12delinsAC
ENST00000651434.1:c.3229-13_3229-12delinsAC
ENST00000651750.1:c.1260+301_1260+302delinsAC
ENST00000652487.1:c.3044-13_3044-12delinsAC
ENST00000464408.3:n.48-13_48-12delinsAC
ENST00000484298.5:c.11747-13_11747-12delinsAC	ENSP00000478155.1:n.11747-13_11747-12delinsAC
ENST00000613296.4:c.11873-13_11873-12delinsAC	ENSP00000482968.1:n.11873-13_11873-12delinsAC
ENST00000620466.4:n.5676-13_5676-12delinsAC
NM_015120.4:c.11876-13_11876-12delinsAC , LRG_741t1:c.11876-13_11876-12delinsAC	NP_055935.4:n.11876-13_11876-12delinsAC
NM_001378454.1:c.11873-13_11873-12delinsAC MANE Select	NP_001365383.1:n.11873-13_11873-12delinsAC