Canonical Allele Identifier: CA1715439

Gene: ALMS1

Linked Data

• dbSNP Id: rs755189645
• ExAC: 2:73828603 GAGA / G
• gnomAD v2: 2-73828603-GAGA-G
• gnomAD v4: 2-73601476-GAGA-G
• MyVariant Identifiers: chr2:g.73828604_73828606del (hg19) ; chr2:g.73601477_73601479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601482_73601484del , CM000664.2:g.73601482_73601484del	GRCh38
NC_000002.11:g.73828609_73828611del , CM000664.1:g.73828609_73828611del	GRCh37
NC_000002.10:g.73682117_73682119del	NCBI36
NG_011690.1:g.220730_220732del , LRG_741:g.220730_220732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+46_11733+48del	ENSP00000507671.1:n.11733+46_11733+48del
ENST00000682801.1:c.11167-703_11167-701del	ENSP00000507862.1:n.11167-703_11167-701del
ENST00000682859.1:c.11733+46_11733+48del	ENSP00000508222.1:n.11733+46_11733+48del
ENST00000683791.1:c.4819+46_4819+48del
ENST00000684460.1:c.9014+46_9014+48del
ENST00000684548.1:c.11733+46_11733+48del	ENSP00000507421.1:n.11733+46_11733+48del
ENST00000684590.1:c.6180+46_6180+48del	ENSP00000507376.1:n.6180+46_6180+48del
ENST00000684656.1:c.9198+46_9198+48del
ENST00000613296.6:c.12114+46_12114+48del MANE Select	ENSP00000482968.1:n.12114+46_12114+48del
ENST00000651057.1:c.2268+46_2268+48del	ENSP00000498504.1:n.2268+46_2268+48del
ENST00000651434.1:c.3470+46_3470+48del
ENST00000651750.1:c.1260+601_1260+603del
ENST00000652487.1:c.3285+46_3285+48del
ENST00000464408.3:n.289+46_289+48del
ENST00000484298.5:c.11988+46_11988+48del	ENSP00000478155.1:n.11988+46_11988+48del
ENST00000613296.4:c.12114+46_12114+48del	ENSP00000482968.1:n.12114+46_12114+48del
ENST00000620466.4:n.5917+46_5917+48del
NM_015120.4:c.12117+46_12117+48del , LRG_741t1:c.12117+46_12117+48del	NP_055935.4:n.12117+46_12117+48del
NM_001378454.1:c.12114+46_12114+48del MANE Select	NP_001365383.1:n.12114+46_12114+48del