Canonical Allele Identifier: CA2596299596

Gene: TBC1D4

Linked Data

• gnomAD v3: 13-75324288-CT-C
• gnomAD v4: 13-75324288-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75324292del , CM000675.2:g.75324292del	GRCh38
NC_000013.10:g.75898428del , CM000675.1:g.75898428del	GRCh37
NC_000013.9:g.74796429del	NCBI36
NG_042850.1:g.162880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2146del MANE Select	ENSP00000366863.3:p.Ser716AlafsTer?
ENST00000648194.1:c.1490+1908del	ENSP00000496983.1:n.1490+1908del
ENST00000377625.6:c.2033+1908del	ENSP00000366852.2:n.2033+1908del
ENST00000377636.7:c.2146del	ENSP00000366863.3:p.Ser716AlafsTer?
ENST00000413735.1:c.569+1908del	ENSP00000396932.1:n.569+1908del
ENST00000431480.6:c.2146del	ENSP00000395986.2:p.Ser716AlafsTer?
ENST00000488955.1:n.167del
NM_001286658.1:c.2146del	NP_001273587.1:p.Ser716AlafsTer?
NM_001286658.2:c.2146del	NP_001273587.1:p.Ser716AlafsTer?
NM_001286659.1:c.2033+1908del	NP_001273588.1:n.2033+1908del
NM_001286659.2:c.2033+1908del	NP_001273588.1:n.2033+1908del
NM_014832.3:c.2146del	NP_055647.2:p.Ser716AlafsTer?
NM_014832.4:c.2146del	NP_055647.2:p.Ser716AlafsTer?
XM_005266603.1:c.2071del	XP_005266660.1:p.Ser691AlafsTer?
XM_005266605.1:c.1603del	XP_005266662.1:p.Ser535AlafsTer?
XM_006719903.2:c.1672del	XP_006719966.1:p.Ser558AlafsTer?
XM_011535331.1:c.2035del	XP_011533633.1:p.Ser679AlafsTer?
XM_005266603.2:c.2071del	XP_005266660.1:p.Ser691AlafsTer?
XM_005266605.3:c.1603del	XP_005266662.1:p.Ser535AlafsTer?
XM_006719903.3:c.1672del	XP_006719966.1:p.Ser558AlafsTer?
XM_011535331.2:c.2035del	XP_011533633.1:p.Ser679AlafsTer?
XM_017020882.2:c.1490+1908del	XP_016876371.1:n.1490+1908del
XM_017020883.2:c.1379+1908del	XP_016876372.1:n.1379+1908del
NM_014832.5:c.2146del MANE Select	NP_055647.2:p.Ser716AlafsTer?