Canonical Allele Identifier: CA892842368

Gene: ALMS1

Linked Data

• dbSNP Id: rs1280166926
• gnomAD v3: 2-73601152-AAAG-A
• gnomAD v4: 2-73601152-AAAG-A
• MyVariant Identifiers: chr2:g.73828280_73828282del (hg19) ; chr2:g.73601153_73601155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601153_73601155del , CM000664.2:g.73601153_73601155del	GRCh38
NC_000002.11:g.73828280_73828282del , CM000664.1:g.73828280_73828282del	GRCh37
NC_000002.10:g.73681788_73681790del	NCBI36
NG_011690.1:g.220401_220403del , LRG_741:g.220401_220403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-42_11492-40del	ENSP00000507671.1:n.11492-42_11492-40del
ENST00000682801.1:c.11167-1032_11167-1030del	ENSP00000507862.1:n.11167-1032_11167-1030del
ENST00000682859.1:c.11492-42_11492-40del	ENSP00000508222.1:n.11492-42_11492-40del
ENST00000683791.1:c.4578-42_4578-40del
ENST00000684460.1:c.8773-42_8773-40del
ENST00000684548.1:c.11492-42_11492-40del	ENSP00000507421.1:n.11492-42_11492-40del
ENST00000684590.1:c.5939-42_5939-40del	ENSP00000507376.1:n.5939-42_5939-40del
ENST00000684656.1:c.8957-42_8957-40del
ENST00000613296.6:c.11873-42_11873-40del MANE Select	ENSP00000482968.1:n.11873-42_11873-40del
ENST00000651057.1:c.2027-42_2027-40del	ENSP00000498504.1:n.2027-42_2027-40del
ENST00000651434.1:c.3229-42_3229-40del
ENST00000651750.1:c.1260+272_1260+274del
ENST00000652487.1:c.3044-42_3044-40del
ENST00000464408.3:n.48-42_48-40del
ENST00000484298.5:c.11747-42_11747-40del	ENSP00000478155.1:n.11747-42_11747-40del
ENST00000613296.4:c.11873-42_11873-40del	ENSP00000482968.1:n.11873-42_11873-40del
ENST00000620466.4:n.5676-42_5676-40del
NM_015120.4:c.11876-42_11876-40del , LRG_741t1:c.11876-42_11876-40del	NP_055935.4:n.11876-42_11876-40del
NM_001378454.1:c.11873-42_11873-40del MANE Select	NP_001365383.1:n.11873-42_11873-40del