Canonical Allele Identifier: CA1714314

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2506349
• ClinVar RCV Id: RCV003234941 ; RCV003609273
• dbSNP Id: rs780902654
• ExAC: 2:73716740 CTGTT / C
• gnomAD v2: 2-73716740-CTGTT-C
• gnomAD v4: 2-73489613-CTGTT-C
• MyVariant Identifiers: chr2:g.73716741_73716744del (hg19) ; chr2:g.73489614_73489617del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489621_73489624del , CM000664.2:g.73489621_73489624del	GRCh38
NC_000002.11:g.73716748_73716751del , CM000664.1:g.73716748_73716751del	GRCh37
NC_000002.10:g.73570256_73570259del	NCBI36
NG_011690.1:g.108869_108872del , LRG_741:g.108869_108872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7294-13_7294-10del	ENSP00000507671.1:n.7294-13_7294-10del
ENST00000682801.1:c.7294-13_7294-10del	ENSP00000507862.1:n.7294-13_7294-10del
ENST00000682859.1:c.7294-13_7294-10del	ENSP00000508222.1:n.7294-13_7294-10del
ENST00000683791.1:c.686-13_686-10del
ENST00000684460.1:c.4746-13_4746-10del
ENST00000684548.1:c.7294-13_7294-10del	ENSP00000507421.1:n.7294-13_7294-10del
ENST00000684590.1:c.1741-13_1741-10del	ENSP00000507376.1:n.1741-13_1741-10del
ENST00000684656.1:c.4746-13_4746-10del
ENST00000613296.6:c.7675-13_7675-10del MANE Select	ENSP00000482968.1:n.7675-13_7675-10del
ENST00000651434.1:c.896-30154_896-30151del
ENST00000423048.5:c.2506-13_2506-10del	ENSP00000399833.1:n.2506-13_2506-10del
ENST00000484298.5:c.7549-13_7549-10del	ENSP00000478155.1:n.7549-13_7549-10del
ENST00000613296.4:c.7675-13_7675-10del	ENSP00000482968.1:n.7675-13_7675-10del
ENST00000614410.4:c.7675-13_7675-10del	ENSP00000479094.1:n.7675-13_7675-10del
ENST00000620466.4:n.1478-13_1478-10del
NM_015120.4:c.7678-13_7678-10del , LRG_741t1:c.7678-13_7678-10del	NP_055935.4:n.7678-13_7678-10del
NM_001378454.1:c.7675-13_7675-10del MANE Select	NP_001365383.1:n.7675-13_7675-10del