Canonical Allele Identifier: CA2504023

Gene: ARL13B

Linked Data

• dbSNP Id: rs781011347
• ExAC: 3:93754155 GTACTT / G
• gnomAD v2: 3-93754155-GTACTT-G
• gnomAD v4: 3-94035311-GTACTT-G
• MyVariant Identifiers: chr3:g.93754156_93754160del (hg19) ; chr3:g.94035312_94035316del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.94035314_94035318del , CM000665.2:g.94035314_94035318del	GRCh38
NC_000003.11:g.93754158_93754162del , CM000665.1:g.93754158_93754162del	GRCh37
NC_000003.10:g.95236848_95236852del	NCBI36
NG_017076.1:g.60176_60180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394222.8:c.381-17_381-13del MANE Select	ENSP00000377769.3:n.381-17_381-13del
ENST00000486562.2:c.60-17_60-13del	ENSP00000505366.1:n.60-17_60-13del
ENST00000679404.1:c.306-17_306-13del	ENSP00000505252.1:n.306-17_306-13del
ENST00000679587.1:c.381-17_381-13del	ENSP00000505396.1:n.381-17_381-13del
ENST00000679601.1:c.*233-17_*233-13del	ENSP00000506200.1:n.*233-17_*233-13del
ENST00000679607.1:c.-457-17_-457-13del	ENSP00000505148.1:n.-457-17_-457-13del
ENST00000679654.1:c.253-17_253-13del	ENSP00000505178.1:n.253-17_253-13del
ENST00000679657.1:c.-32-14092_-32-14088del	ENSP00000505494.1:n.-32-14092_-32-14088del
ENST00000679666.1:c.9-17_9-13del	ENSP00000506469.1:n.9-17_9-13del
ENST00000679739.1:c.72-1238_72-1234del	ENSP00000506703.1:n.72-1238_72-1234del
ENST00000679872.1:c.330-17_330-13del	ENSP00000505607.1:n.330-17_330-13del
ENST00000680414.1:c.*233-1238_*233-1234del	ENSP00000506063.1:n.*233-1238_*233-1234del
ENST00000680430.1:c.630-17_630-13del	ENSP00000504943.1:n.630-17_630-13del
ENST00000680994.1:n.411-17_411-13del
ENST00000681013.1:c.381-1238_381-1234del	ENSP00000506243.1:n.381-1238_381-1234del
ENST00000681247.1:c.60-1238_60-1234del	ENSP00000505168.1:n.60-1238_60-1234del
ENST00000681380.1:c.381-17_381-13del	ENSP00000505402.1:n.381-17_381-13del
ENST00000681655.1:c.306-17_306-13del	ENSP00000505036.1:n.306-17_306-13del
ENST00000303097.11:c.60-17_60-13del	ENSP00000306225.7:n.60-17_60-13del
ENST00000335438.7:c.*233-17_*233-13del	ENSP00000335400.3:n.*233-17_*233-13del
ENST00000394222.7:c.381-17_381-13del	ENSP00000377769.3:n.381-17_381-13del
ENST00000460371.5:c.131-1238_131-1234del	ENSP00000417263.1:n.131-1238_131-1234del
ENST00000471138.5:c.381-17_381-13del	ENSP00000420780.1:n.381-17_381-13del
ENST00000486562.1:n.337-17_337-13del
ENST00000535334.5:c.72-17_72-13del	ENSP00000445145.1:n.72-17_72-13del
NM_001174150.1:c.381-17_381-13del	NP_001167621.1:n.381-17_381-13del
NM_001174151.1:c.72-17_72-13del	NP_001167622.1:n.72-17_72-13del
NM_144996.3:c.60-17_60-13del	NP_659433.2:n.60-17_60-13del
NM_182896.2:c.381-17_381-13del	NP_878899.1:n.381-17_381-13del
NR_033427.1:n.416-17_416-13del
XM_006713531.2:c.336-17_336-13del	XP_006713594.1:n.336-17_336-13del
XM_006713532.2:c.336-17_336-13del	XP_006713595.1:n.336-17_336-13del
XM_011512532.1:c.345-17_345-13del	XP_011510834.1:n.345-17_345-13del
XM_011512533.1:c.345-17_345-13del	XP_011510835.1:n.345-17_345-13del
XM_011512534.1:c.336-17_336-13del	XP_011510836.1:n.336-17_336-13del
XM_011512535.1:c.306-17_306-13del	XP_011510837.1:n.306-17_306-13del
XM_011512536.1:c.72-17_72-13del	XP_011510838.1:n.72-17_72-13del
NM_001321328.1:c.336-17_336-13del	NP_001308257.1:n.336-17_336-13del
NR_135621.1:n.412-17_412-13del
XM_006713532.3:c.336-17_336-13del	XP_006713595.1:n.336-17_336-13del
XM_011512532.2:c.345-17_345-13del	XP_011510834.1:n.345-17_345-13del
XM_011512533.2:c.345-17_345-13del	XP_011510835.1:n.345-17_345-13del
XM_011512534.2:c.336-17_336-13del	XP_011510836.1:n.336-17_336-13del
XM_011512535.2:c.306-17_306-13del	XP_011510837.1:n.306-17_306-13del
XM_017005853.1:c.72-17_72-13del	XP_016861342.1:n.72-17_72-13del
NM_001174150.2:c.381-17_381-13del MANE Select	NP_001167621.1:n.381-17_381-13del
NM_001321328.2:c.336-17_336-13del	NP_001308257.1:n.336-17_336-13del
NM_144996.4:c.60-17_60-13del	NP_659433.2:n.60-17_60-13del
NM_182896.3:c.381-17_381-13del	NP_878899.1:n.381-17_381-13del
NR_033427.2:n.400-17_400-13del
NR_135621.2:n.396-17_396-13del
NM_001174151.2:c.72-17_72-13del	NP_001167622.1:n.72-17_72-13del