Canonical Allele Identifier: CA534125607

Gene: ALMS1

Linked Data

• dbSNP Id: rs1558666465
• gnomAD v2: 2-73716733-TAAG-T
• gnomAD v4: 2-73489606-TAAG-T
• MyVariant Identifiers: chr2:g.73716734_73716736del (hg19) ; chr2:g.73489607_73489609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489609_73489611del , CM000664.2:g.73489609_73489611del	GRCh38
NC_000002.11:g.73716736_73716738del , CM000664.1:g.73716736_73716738del	GRCh37
NC_000002.10:g.73570244_73570246del	NCBI36
NG_011690.1:g.108857_108859del , LRG_741:g.108857_108859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7294-25_7294-23del	ENSP00000507671.1:n.7294-25_7294-23del
ENST00000682801.1:c.7294-25_7294-23del	ENSP00000507862.1:n.7294-25_7294-23del
ENST00000682859.1:c.7294-25_7294-23del	ENSP00000508222.1:n.7294-25_7294-23del
ENST00000683791.1:c.686-25_686-23del
ENST00000684460.1:c.4746-25_4746-23del
ENST00000684548.1:c.7294-25_7294-23del	ENSP00000507421.1:n.7294-25_7294-23del
ENST00000684590.1:c.1741-25_1741-23del	ENSP00000507376.1:n.1741-25_1741-23del
ENST00000684656.1:c.4746-25_4746-23del
ENST00000613296.6:c.7675-25_7675-23del MANE Select	ENSP00000482968.1:n.7675-25_7675-23del
ENST00000651434.1:c.896-30166_896-30164del
ENST00000423048.5:c.2506-25_2506-23del	ENSP00000399833.1:n.2506-25_2506-23del
ENST00000484298.5:c.7549-25_7549-23del	ENSP00000478155.1:n.7549-25_7549-23del
ENST00000613296.4:c.7675-25_7675-23del	ENSP00000482968.1:n.7675-25_7675-23del
ENST00000614410.4:c.7675-25_7675-23del	ENSP00000479094.1:n.7675-25_7675-23del
ENST00000620466.4:n.1478-25_1478-23del
NM_015120.4:c.7678-25_7678-23del , LRG_741t1:c.7678-25_7678-23del	NP_055935.4:n.7678-25_7678-23del
NM_001378454.1:c.7675-25_7675-23del MANE Select	NP_001365383.1:n.7675-25_7675-23del