Canonical Allele Identifier: CA534125800

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 552078
• ClinVar RCV Id: RCV000667277
• dbSNP Id: rs1245181381
• gnomAD v2: 2-73828534-CTGAGGCCATTTG-C
• gnomAD v3: 2-73601407-CTGAGGCCATTTG-C
• gnomAD v4: 2-73601407-CTGAGGCCATTTG-C
• MyVariant Identifiers: chr2:g.73828535_73828546del (hg19) ; chr2:g.73601412_73601423del (hg38) ; chr2:g.73601408_73601419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601412_73601423del , CM000664.2:g.73601412_73601423del	GRCh38
NC_000002.11:g.73828539_73828550del , CM000664.1:g.73828539_73828550del	GRCh37
NC_000002.10:g.73682047_73682058del	NCBI36
NG_011690.1:g.220660_220671del , LRG_741:g.220660_220671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11709_11720del	ENSP00000507671.1:p.Pro3904_Arg3907del
ENST00000682801.1:c.11167-773_11167-762del	ENSP00000507862.1:n.11167-773_11167-762del
ENST00000682859.1:c.11709_11720del	ENSP00000508222.1:p.Pro3904_Arg3907del
ENST00000683791.1:c.4795_4806del
ENST00000684460.1:c.8990_9001del
ENST00000684548.1:c.11709_11720del	ENSP00000507421.1:p.Pro3904_Arg3907del
ENST00000684590.1:c.6156_6167del	ENSP00000507376.1:p.Pro2053_Arg2056del
ENST00000684656.1:c.9174_9185del
ENST00000613296.6:c.12090_12101del MANE Select	ENSP00000482968.1:p.Pro4031_Arg4034del
ENST00000651057.1:c.2244_2255del	ENSP00000498504.1:p.Pro749_Arg752del
ENST00000651434.1:c.3446_3457del
ENST00000651750.1:c.1260+531_1260+542del
ENST00000652487.1:c.3261_3272del
ENST00000464408.3:n.265_276del
ENST00000484298.5:c.11964_11975del	ENSP00000478155.1:p.Pro3989_Arg3992del
ENST00000613296.4:c.12090_12101del	ENSP00000482968.1:p.Pro4031_Arg4034del
ENST00000620466.4:n.5893_5904del
NM_015120.4:c.12093_12104del , LRG_741t1:c.12093_12104del	NP_055935.4:p.Pro4032_Arg4035del
NM_001378454.1:c.12090_12101del MANE Select	NP_001365383.1:p.Pro4031_Arg4034del