Canonical Allele Identifier: CA2697548291

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2717368
• ClinVar RCV Id: RCV003503912

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572575_73572579del , CM000664.2:g.73572575_73572579del	GRCh38
NC_000002.11:g.73799702_73799706del , CM000664.1:g.73799702_73799706del	GRCh37
NC_000002.10:g.73653210_73653214del	NCBI36
NG_011690.1:g.191823_191827del , LRG_741:g.191823_191827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10317_10321del	ENSP00000507671.1:p.Val3440ArgfsTer6
ENST00000682801.1:c.10317_10321del	ENSP00000507862.1:p.Val3440ArgfsTer6
ENST00000682859.1:c.10317_10321del	ENSP00000508222.1:p.Val3440ArgfsTer6
ENST00000683791.1:c.3403_3407del
ENST00000684460.1:c.7598_7602del
ENST00000684548.1:c.10317_10321del	ENSP00000507421.1:p.Val3440ArgfsTer6
ENST00000684590.1:c.4764_4768del	ENSP00000507376.1:p.Val1589ArgfsTer6
ENST00000684656.1:c.7643_7647del
ENST00000613296.6:c.10698_10702del MANE Select	ENSP00000482968.1:p.Val3567ArgfsTer6
ENST00000651057.1:c.852_856del	ENSP00000498504.1:p.Val285ArgfsTer6
ENST00000651434.1:c.2054_2058del
ENST00000651750.1:c.86_90del
ENST00000652487.1:c.1795_1799del
ENST00000423048.5:c.4189_4193del	ENSP00000399833.1:n.4189_4193del
ENST00000484298.5:c.10572_10576del	ENSP00000478155.1:p.Val3525ArgfsTer6
ENST00000613296.4:c.10698_10702del	ENSP00000482968.1:p.Val3567ArgfsTer6
ENST00000614410.4:c.10698_10702del	ENSP00000479094.1:p.Val3567ArgfsTer6
ENST00000620466.4:n.4501_4505del
NM_015120.4:c.10701_10705del , LRG_741t1:c.10701_10705del	NP_055935.4:p.Val3568ArgfsTer6
NM_001378454.1:c.10698_10702del MANE Select	NP_001365383.1:p.Val3567ArgfsTer6