Canonical Allele Identifier: CA2574645072

Gene: TWNK

Linked Data

• gnomAD v4: 10-100989541-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989545_100989547del , CM000672.2:g.100989545_100989547del	GRCh38
NC_000010.10:g.102749302_102749304del , CM000672.1:g.102749302_102749304del	GRCh37
NC_000010.9:g.102739292_102739294del	NCBI36
NG_011646.1:g.2972_2974del
NG_012624.1:g.7010_7012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1243+92_1243+94del MANE Select	ENSP00000309595.2:n.1243+92_1243+94del
ENST00000370228.2:c.1243+92_1243+94del	ENSP00000359248.1:n.1243+92_1243+94del
ENST00000643860.1:c.1243+92_1243+94del	ENSP00000494389.1:n.1243+92_1243+94del
ENST00000646226.1:n.59-99_59-97del
ENST00000650396.1:c.266+92_266+94del
ENST00000311916.6:c.1243+92_1243+94del	ENSP00000309595.2:n.1243+92_1243+94del
ENST00000370228.1:c.1243+92_1243+94del	ENSP00000359248.1:n.1243+92_1243+94del
ENST00000459764.1:n.87-99_87-97del
ENST00000473656.5:n.65-99_65-97del
ENST00000476766.5:n.192-161_192-159del
NM_001163812.1:c.1243+92_1243+94del	NP_001157284.1:n.1243+92_1243+94del
NM_001163813.1:c.-119-99_-119-97del	NP_001157285.1:n.-119-99_-119-97del
NM_001163814.1:c.-119-99_-119-97del	NP_001157286.1:n.-119-99_-119-97del
NM_021830.4:c.1243+92_1243+94del	NP_068602.2:n.1243+92_1243+94del
XM_011539974.1:c.-58+92_-58+94del	XP_011538276.1:n.-58+92_-58+94del
XM_011539975.1:c.-57-161_-57-159del	XP_011538277.1:n.-57-161_-57-159del
XR_945788.1:n.2076+92_2076+94del
XM_011539975.2:c.-57-161_-57-159del	XP_011538277.1:n.-57-161_-57-159del
XM_017016437.1:c.-58+92_-58+94del	XP_016871926.1:n.-58+92_-58+94del
XR_001747142.1:n.1417+92_1417+94del
XR_001747144.1:n.1417+92_1417+94del
XR_002956991.1:n.1417+92_1417+94del
XR_945788.2:n.1417+92_1417+94del
NM_021830.5:c.1243+92_1243+94del MANE Select	NP_068602.2:n.1243+92_1243+94del
NM_001163812.2:c.1243+92_1243+94del	NP_001157284.1:n.1243+92_1243+94del
NM_001163813.2:c.-119-99_-119-97del	NP_001157285.1:n.-119-99_-119-97del
NM_001163814.2:c.-119-99_-119-97del	NP_001157286.1:n.-119-99_-119-97del
NM_001368275.1:c.-57-161_-57-159del	NP_001355204.1:n.-57-161_-57-159del
NR_160738.1:n.1911+92_1911+94del
NR_160739.1:n.72-99_72-97del
NR_160740.1:n.1911+92_1911+94del
NR_160741.1:n.1911+92_1911+94del
NR_160742.1:n.1911+92_1911+94del