Canonical Allele Identifier: CA1715029

Gene: ALMS1

Linked Data

• dbSNP Id: rs774323767
• ExAC: 2:73799579 CAT / C
• gnomAD v2: 2-73799579-CAT-C
• MyVariant Identifiers: chr2:g.73799580_73799581del (hg19) ; chr2:g.73572453_73572454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572453_73572454del , CM000664.2:g.73572453_73572454del	GRCh38
NC_000002.11:g.73799580_73799581del , CM000664.1:g.73799580_73799581del	GRCh37
NC_000002.10:g.73653088_73653089del	NCBI36
NG_011690.1:g.191701_191702del , LRG_741:g.191701_191702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10195_10196del	ENSP00000507671.1:p.Met3399ValfsTer13
ENST00000682801.1:c.10195_10196del	ENSP00000507862.1:p.Met3399ValfsTer13
ENST00000682859.1:c.10195_10196del	ENSP00000508222.1:p.Met3399ValfsTer13
ENST00000683791.1:c.3281_3282del
ENST00000684460.1:c.7476_7477del
ENST00000684548.1:c.10195_10196del	ENSP00000507421.1:p.Met3399ValfsTer13
ENST00000684590.1:c.4642_4643del	ENSP00000507376.1:p.Met1548ValfsTer13
ENST00000684656.1:c.7521_7522del
ENST00000613296.6:c.10576_10577del MANE Select	ENSP00000482968.1:p.Met3526ValfsTer13
ENST00000651057.1:c.730_731del	ENSP00000498504.1:p.Met244ValfsTer13
ENST00000651434.1:c.1932_1933del
ENST00000652487.1:c.1673_1674del
ENST00000423048.5:c.4067_4068del	ENSP00000399833.1:n.4067_4068del
ENST00000484298.5:c.10450_10451del	ENSP00000478155.1:p.Met3484ValfsTer13
ENST00000613296.4:c.10576_10577del	ENSP00000482968.1:p.Met3526ValfsTer13
ENST00000614410.4:c.10576_10577del	ENSP00000479094.1:p.Met3526ValfsTer13
ENST00000620466.4:n.4379_4380del
NM_015120.4:c.10579_10580del , LRG_741t1:c.10579_10580del	NP_055935.4:p.Met3527ValfsTer13
NM_001378454.1:c.10576_10577del MANE Select	NP_001365383.1:p.Met3526ValfsTer13