Canonical Allele Identifier: CA892825339

Gene: ALMS1

Linked Data

• dbSNP Id: rs1306138401
• gnomAD v4: 2-73572211-CAG-C
• MyVariant Identifiers: chr2:g.73799339_73799340del (hg19) ; chr2:g.73572212_73572213del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572213_73572214del , CM000664.2:g.73572213_73572214del	GRCh38
NC_000002.11:g.73799340_73799341del , CM000664.1:g.73799340_73799341del	GRCh37
NC_000002.10:g.73652848_73652849del	NCBI36
NG_011690.1:g.191461_191462del , LRG_741:g.191461_191462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-49_10004-48del	ENSP00000507671.1:n.10004-49_10004-48del
ENST00000682801.1:c.10004-49_10004-48del	ENSP00000507862.1:n.10004-49_10004-48del
ENST00000682859.1:c.10004-49_10004-48del	ENSP00000508222.1:n.10004-49_10004-48del
ENST00000683791.1:c.3090-49_3090-48del
ENST00000684460.1:c.7285-49_7285-48del
ENST00000684548.1:c.10004-49_10004-48del	ENSP00000507421.1:n.10004-49_10004-48del
ENST00000684590.1:c.4451-49_4451-48del	ENSP00000507376.1:n.4451-49_4451-48del
ENST00000684656.1:c.7330-49_7330-48del
ENST00000613296.6:c.10385-49_10385-48del MANE Select	ENSP00000482968.1:n.10385-49_10385-48del
ENST00000651057.1:c.539-49_539-48del	ENSP00000498504.1:n.539-49_539-48del
ENST00000651434.1:c.1741-49_1741-48del
ENST00000652487.1:c.1482-49_1482-48del
ENST00000423048.5:c.3876-49_3876-48del	ENSP00000399833.1:n.3876-49_3876-48del
ENST00000484298.5:c.10259-49_10259-48del	ENSP00000478155.1:n.10259-49_10259-48del
ENST00000613296.4:c.10385-49_10385-48del	ENSP00000482968.1:n.10385-49_10385-48del
ENST00000614410.4:c.10385-49_10385-48del	ENSP00000479094.1:n.10385-49_10385-48del
ENST00000620466.4:n.4188-49_4188-48del
NM_015120.4:c.10388-49_10388-48del , LRG_741t1:c.10388-49_10388-48del	NP_055935.4:n.10388-49_10388-48del
NM_001378454.1:c.10385-49_10385-48del MANE Select	NP_001365383.1:n.10385-49_10385-48del