Canonical Allele Identifier: CA2659619850

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490049-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490053_73490055del , CM000664.2:g.73490053_73490055del	GRCh38
NC_000002.11:g.73717180_73717182del , CM000664.1:g.73717180_73717182del	GRCh37
NC_000002.10:g.73570688_73570690del	NCBI36
NG_011690.1:g.109301_109303del , LRG_741:g.109301_109303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7713_7715del	ENSP00000507671.1:p.Ser2572del
ENST00000682801.1:c.7713_7715del	ENSP00000507862.1:p.Ser2572del
ENST00000682859.1:c.7713_7715del	ENSP00000508222.1:p.Ser2572del
ENST00000683791.1:c.1105_1107del
ENST00000684460.1:c.5165_5167del
ENST00000684548.1:c.7713_7715del	ENSP00000507421.1:p.Ser2572del
ENST00000684590.1:c.2160_2162del	ENSP00000507376.1:p.Ser721del
ENST00000684656.1:c.5165_5167del
ENST00000613296.6:c.8094_8096del MANE Select	ENSP00000482968.1:p.Ser2699del
ENST00000651434.1:c.896-29722_896-29720del
ENST00000423048.5:c.2925_2927del	ENSP00000399833.1:p.Ser976del
ENST00000484298.5:c.7968_7970del	ENSP00000478155.1:p.Ser2657del
ENST00000613296.4:c.8094_8096del	ENSP00000482968.1:p.Ser2699del
ENST00000614410.4:c.8094_8096del	ENSP00000479094.1:p.Ser2699del
ENST00000620466.4:n.1897_1899del
NM_015120.4:c.8097_8099del , LRG_741t1:c.8097_8099del	NP_055935.4:p.Ser2700del
NM_001378454.1:c.8094_8096del MANE Select	NP_001365383.1:p.Ser2699del