Canonical Allele Identifier: CA534123608

Gene: ALMS1

Linked Data

• dbSNP Id: rs1558699576
• gnomAD v2: 2-73799951-TAC-T
• gnomAD v3: 2-73572824-TAC-T
• gnomAD v4: 2-73572824-TAC-T
• MyVariant Identifiers: chr2:g.73799952_73799953del (hg19) ; chr2:g.73572825_73572826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572828_73572829del , CM000664.2:g.73572828_73572829del	GRCh38
NC_000002.11:g.73799955_73799956del , CM000664.1:g.73799955_73799956del	GRCh37
NC_000002.10:g.73653463_73653464del	NCBI36
NG_011690.1:g.192076_192077del , LRG_741:g.192076_192077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10570_10571del	ENSP00000507671.1:p.His3524Ter
ENST00000682801.1:c.10570_10571del	ENSP00000507862.1:p.His3524Ter
ENST00000682859.1:c.10570_10571del	ENSP00000508222.1:p.His3524Ter
ENST00000683791.1:c.3656_3657del
ENST00000684460.1:c.7851_7852del
ENST00000684548.1:c.10570_10571del	ENSP00000507421.1:p.His3524Ter
ENST00000684590.1:c.5017_5018del	ENSP00000507376.1:p.His1673Ter
ENST00000684656.1:c.7896_7897del
ENST00000613296.6:c.10951_10952del MANE Select	ENSP00000482968.1:p.His3651Ter
ENST00000651057.1:c.1105_1106del	ENSP00000498504.1:p.His369Ter
ENST00000651434.1:c.2307_2308del
ENST00000651750.1:c.339_340del
ENST00000652487.1:c.2048_2049del
ENST00000423048.5:c.4442_4443del	ENSP00000399833.1:n.4442_4443del
ENST00000484298.5:c.10825_10826del	ENSP00000478155.1:p.His3609Ter
ENST00000613296.4:c.10951_10952del	ENSP00000482968.1:p.His3651Ter
ENST00000614410.4:c.10951_10952del	ENSP00000479094.1:p.His3651Ter
ENST00000620466.4:n.4754_4755del
NM_015120.4:c.10954_10955del , LRG_741t1:c.10954_10955del	NP_055935.4:p.His3652Ter
NM_001378454.1:c.10951_10952del MANE Select	NP_001365383.1:p.His3651Ter