Canonical Allele Identifier: CA544762911

Gene: ARL13B

Linked Data

• dbSNP Id: rs1354341719
• gnomAD v2: 3-93754159-TTTAA-T
• gnomAD v3: 3-94035315-TTTAA-T
• gnomAD v4: 3-94035315-TTTAA-T
• MyVariant Identifiers: chr3:g.93754160_93754163del (hg19) ; chr3:g.94035316_94035319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94035319_94035322del , CM000665.2:g.94035319_94035322del	GRCh38
NC_000003.11:g.93754163_93754166del , CM000665.1:g.93754163_93754166del	GRCh37
NC_000003.10:g.95236853_95236856del	NCBI36
NG_017076.1:g.60181_60184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394222.8:c.381-12_381-9del MANE Select	ENSP00000377769.3:n.381-12_381-9del
ENST00000486562.2:c.60-12_60-9del	ENSP00000505366.1:n.60-12_60-9del
ENST00000679404.1:c.306-12_306-9del	ENSP00000505252.1:n.306-12_306-9del
ENST00000679587.1:c.381-12_381-9del	ENSP00000505396.1:n.381-12_381-9del
ENST00000679601.1:c.*233-12_*233-9del	ENSP00000506200.1:n.*233-12_*233-9del
ENST00000679607.1:c.-457-12_-457-9del	ENSP00000505148.1:n.-457-12_-457-9del
ENST00000679654.1:c.253-12_253-9del	ENSP00000505178.1:n.253-12_253-9del
ENST00000679657.1:c.-32-14087_-32-14084del	ENSP00000505494.1:n.-32-14087_-32-14084del
ENST00000679666.1:c.9-12_9-9del	ENSP00000506469.1:n.9-12_9-9del
ENST00000679739.1:c.72-1233_72-1230del	ENSP00000506703.1:n.72-1233_72-1230del
ENST00000679872.1:c.330-12_330-9del	ENSP00000505607.1:n.330-12_330-9del
ENST00000680414.1:c.*233-1233_*233-1230del	ENSP00000506063.1:n.*233-1233_*233-1230del
ENST00000680430.1:c.630-12_630-9del	ENSP00000504943.1:n.630-12_630-9del
ENST00000680994.1:n.411-12_411-9del
ENST00000681013.1:c.381-1233_381-1230del	ENSP00000506243.1:n.381-1233_381-1230del
ENST00000681247.1:c.60-1233_60-1230del	ENSP00000505168.1:n.60-1233_60-1230del
ENST00000681380.1:c.381-12_381-9del	ENSP00000505402.1:n.381-12_381-9del
ENST00000681655.1:c.306-12_306-9del	ENSP00000505036.1:n.306-12_306-9del
ENST00000303097.11:c.60-12_60-9del	ENSP00000306225.7:n.60-12_60-9del
ENST00000335438.7:c.*233-12_*233-9del	ENSP00000335400.3:n.*233-12_*233-9del
ENST00000394222.7:c.381-12_381-9del	ENSP00000377769.3:n.381-12_381-9del
ENST00000460371.5:c.131-1233_131-1230del	ENSP00000417263.1:n.131-1233_131-1230del
ENST00000471138.5:c.381-12_381-9del	ENSP00000420780.1:n.381-12_381-9del
ENST00000486562.1:n.337-12_337-9del
ENST00000535334.5:c.72-12_72-9del	ENSP00000445145.1:n.72-12_72-9del
NM_001174150.1:c.381-12_381-9del	NP_001167621.1:n.381-12_381-9del
NM_001174151.1:c.72-12_72-9del	NP_001167622.1:n.72-12_72-9del
NM_144996.3:c.60-12_60-9del	NP_659433.2:n.60-12_60-9del
NM_182896.2:c.381-12_381-9del	NP_878899.1:n.381-12_381-9del
NR_033427.1:n.416-12_416-9del
XM_006713531.2:c.336-12_336-9del	XP_006713594.1:n.336-12_336-9del
XM_006713532.2:c.336-12_336-9del	XP_006713595.1:n.336-12_336-9del
XM_011512532.1:c.345-12_345-9del	XP_011510834.1:n.345-12_345-9del
XM_011512533.1:c.345-12_345-9del	XP_011510835.1:n.345-12_345-9del
XM_011512534.1:c.336-12_336-9del	XP_011510836.1:n.336-12_336-9del
XM_011512535.1:c.306-12_306-9del	XP_011510837.1:n.306-12_306-9del
XM_011512536.1:c.72-12_72-9del	XP_011510838.1:n.72-12_72-9del
NM_001321328.1:c.336-12_336-9del	NP_001308257.1:n.336-12_336-9del
NR_135621.1:n.412-12_412-9del
XM_006713532.3:c.336-12_336-9del	XP_006713595.1:n.336-12_336-9del
XM_011512532.2:c.345-12_345-9del	XP_011510834.1:n.345-12_345-9del
XM_011512533.2:c.345-12_345-9del	XP_011510835.1:n.345-12_345-9del
XM_011512534.2:c.336-12_336-9del	XP_011510836.1:n.336-12_336-9del
XM_011512535.2:c.306-12_306-9del	XP_011510837.1:n.306-12_306-9del
XM_017005853.1:c.72-12_72-9del	XP_016861342.1:n.72-12_72-9del
NM_001174150.2:c.381-12_381-9del MANE Select	NP_001167621.1:n.381-12_381-9del
NM_001321328.2:c.336-12_336-9del	NP_001308257.1:n.336-12_336-9del
NM_144996.4:c.60-12_60-9del	NP_659433.2:n.60-12_60-9del
NM_182896.3:c.381-12_381-9del	NP_878899.1:n.381-12_381-9del
NR_033427.2:n.400-12_400-9del
NR_135621.2:n.396-12_396-9del
NM_001174151.2:c.72-12_72-9del	NP_001167622.1:n.72-12_72-9del