Canonical Allele Identifier: CA913090882

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828563_73828573del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601437_73601447del , CM000664.2:g.73601437_73601447del	GRCh38
NC_000002.11:g.73828564_73828574del , CM000664.1:g.73828564_73828574del	GRCh37
NC_000002.10:g.73682072_73682082del	NCBI36
NG_011690.1:g.220685_220695del , LRG_741:g.220685_220695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+1_11733+11del
ENST00000682801.1:c.11167-748_11167-738del	ENSP00000507862.1:n.11167-748_11167-738del
ENST00000682859.1:c.11733+1_11733+11del
ENST00000683791.1:c.4819+1_4819+11del
ENST00000684460.1:c.9014+1_9014+11del
ENST00000684548.1:c.11733+1_11733+11del
ENST00000684590.1:c.6180+1_6180+11del
ENST00000684656.1:c.9198+1_9198+11del
ENST00000613296.6:c.12114+1_12114+11del
ENST00000651057.1:c.2268+1_2268+11del
ENST00000651434.1:c.3470+1_3470+11del
ENST00000651750.1:c.1260+556_1260+566del
ENST00000652487.1:c.3285+1_3285+11del
ENST00000464408.3:n.289+1_289+11del
ENST00000484298.5:c.11988+1_11988+11del
ENST00000613296.4:c.12114+1_12114+11del
ENST00000620466.4:n.5917+1_5917+11del
NM_015120.4:c.12117+1_12117+11del , LRG_741t1:c.12117+1_12117+11del
NM_001378454.1:c.12114+1_12114+11del