Canonical Allele Identifier: CA611397692

Gene: TBC1D4

Linked Data

• dbSNP Id: rs1236963364
• gnomAD v2: 13-75884037-A-AATCATAGC
• gnomAD v4: 13-75309901-A-AATCATAGC
• MyVariant Identifiers: chr13:g.75884037_75884038insATCATAGC (hg19) ; chr13:g.75309901_75309902insATCATAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309912_75309919dup , CM000675.2:g.75309912_75309919dup	GRCh38
NC_000013.10:g.75884048_75884055dup , CM000675.1:g.75884048_75884055dup	GRCh37
NC_000013.9:g.74782049_74782056dup	NCBI36
NG_042850.1:g.177260_177267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2593+33_2593+40dup MANE Select	ENSP00000366863.3:n.2593+33_2593+40dup
ENST00000648194.1:c.1861+33_1861+40dup	ENSP00000496983.1:n.1861+33_1861+40dup
ENST00000377625.6:c.2404+33_2404+40dup	ENSP00000366852.2:n.2404+33_2404+40dup
ENST00000377636.7:c.2593+33_2593+40dup	ENSP00000366863.3:n.2593+33_2593+40dup
ENST00000431480.6:c.2569+33_2569+40dup	ENSP00000395986.2:n.2569+33_2569+40dup
ENST00000493487.1:n.452+33_452+40dup
NM_001286658.1:c.2569+33_2569+40dup	NP_001273587.1:n.2569+33_2569+40dup
NM_001286658.2:c.2569+33_2569+40dup	NP_001273587.1:n.2569+33_2569+40dup
NM_001286659.1:c.2404+33_2404+40dup	NP_001273588.1:n.2404+33_2404+40dup
NM_001286659.2:c.2404+33_2404+40dup	NP_001273588.1:n.2404+33_2404+40dup
NM_014832.3:c.2593+33_2593+40dup	NP_055647.2:n.2593+33_2593+40dup
NM_014832.4:c.2593+33_2593+40dup	NP_055647.2:n.2593+33_2593+40dup
XM_005266603.1:c.2518+33_2518+40dup	XP_005266660.1:n.2518+33_2518+40dup
XM_005266605.1:c.2050+33_2050+40dup	XP_005266662.1:n.2050+33_2050+40dup
XM_006719903.2:c.2119+33_2119+40dup	XP_006719966.1:n.2119+33_2119+40dup
XM_011535331.1:c.2482+33_2482+40dup	XP_011533633.1:n.2482+33_2482+40dup
XM_005266603.2:c.2518+33_2518+40dup	XP_005266660.1:n.2518+33_2518+40dup
XM_005266605.3:c.2050+33_2050+40dup	XP_005266662.1:n.2050+33_2050+40dup
XM_006719903.3:c.2119+33_2119+40dup	XP_006719966.1:n.2119+33_2119+40dup
XM_011535331.2:c.2482+33_2482+40dup	XP_011533633.1:n.2482+33_2482+40dup
XM_017020882.2:c.1861+33_1861+40dup	XP_016876371.1:n.1861+33_1861+40dup
XM_017020883.2:c.1750+33_1750+40dup	XP_016876372.1:n.1750+33_1750+40dup
XM_017020884.2:c.160+33_160+40dup	XP_016876373.1:n.160+33_160+40dup
NM_014832.5:c.2593+33_2593+40dup MANE Select	NP_055647.2:n.2593+33_2593+40dup