Canonical Allele Identifier: CA2574645081

Gene: TWNK

Linked Data

• gnomAD v4: 10-100989811-TATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989814_100989816del , CM000672.2:g.100989814_100989816del	GRCh38
NC_000010.10:g.102749571_102749573del , CM000672.1:g.102749571_102749573del	GRCh37
NC_000010.9:g.102739561_102739563del	NCBI36
NG_011646.1:g.2702_2704del
NG_012624.1:g.7279_7281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1414_1416del MANE Select	ENSP00000309595.2:p.Asp472del
ENST00000370228.2:c.1414_1416del	ENSP00000359248.1:p.Asp472del
ENST00000643860.1:c.1414_1416del	ENSP00000494389.1:p.Asp472del
ENST00000646226.1:n.229_231del
ENST00000647109.1:c.73_75del
ENST00000650396.1:c.375_377del
ENST00000311916.6:c.1414_1416del	ENSP00000309595.2:p.Asp472del
ENST00000370228.1:c.1414_1416del	ENSP00000359248.1:p.Asp472del
ENST00000459764.1:n.257_259del
ENST00000473656.5:n.235_237del
ENST00000476766.5:n.300_302del
NM_001163812.1:c.1414_1416del	NP_001157284.1:p.Asp472del
NM_001163813.1:c.52_54del	NP_001157285.1:p.Asp18del
NM_001163814.1:c.52_54del	NP_001157286.1:p.Asp18del
NM_021830.4:c.1414_1416del	NP_068602.2:p.Asp472del
XM_011539974.1:c.52_54del	XP_011538276.1:p.Asp18del
XM_011539975.1:c.52_54del	XP_011538277.1:p.Asp18del
XR_945788.1:n.2185_2187del
XM_011539975.2:c.52_54del	XP_011538277.1:p.Asp18del
XM_017016437.1:c.52_54del	XP_016871926.1:p.Asp18del
XR_001747142.1:n.1588_1590del
XR_001747144.1:n.1526_1528del
XR_002956991.1:n.1526_1528del
XR_945788.2:n.1526_1528del
NM_021830.5:c.1414_1416del MANE Select	NP_068602.2:p.Asp472del
NM_001163812.2:c.1414_1416del	NP_001157284.1:p.Asp472del
NM_001163813.2:c.52_54del	NP_001157285.1:p.Asp18del
NM_001163814.2:c.52_54del	NP_001157286.1:p.Asp18del
NM_001368275.1:c.52_54del	NP_001355204.1:p.Asp18del
NR_160738.1:n.2082_2084del
NR_160739.1:n.242_244del
NR_160740.1:n.2020_2022del
NR_160741.1:n.2020_2022del
NR_160742.1:n.2020_2022del