Canonical Allele Identifier: CA2610573565

Gene: TWNK

Linked Data

• gnomAD v4: 10-100990291-C-CTACAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990292_100990297dup , CM000672.2:g.100990292_100990297dup	GRCh38
NC_000010.10:g.102750049_102750054dup , CM000672.1:g.102750049_102750054dup	GRCh37
NC_000010.9:g.102740039_102740044dup	NCBI36
NG_011646.1:g.2219_2224dup
NG_012624.1:g.7757_7762dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1485-144_1485-139dup MANE Select	ENSP00000309595.2:n.1485-144_1485-139dup
ENST00000370228.2:c.1485-144_1485-139dup	ENSP00000359248.1:n.1485-144_1485-139dup
ENST00000643860.1:c.1485-144_1485-139dup	ENSP00000494389.1:n.1485-144_1485-139dup
ENST00000646226.1:n.300-144_300-139dup
ENST00000647109.1:c.144-144_144-139dup
ENST00000650396.1:c.446-144_446-139dup
ENST00000311916.6:c.1485-144_1485-139dup	ENSP00000309595.2:n.1485-144_1485-139dup
ENST00000370228.1:c.1485-144_1485-139dup	ENSP00000359248.1:n.1485-144_1485-139dup
ENST00000473656.5:n.306-144_306-139dup
ENST00000476766.5:n.371-144_371-139dup
NM_001163812.1:c.1485-144_1485-139dup	NP_001157284.1:n.1485-144_1485-139dup
NM_001163813.1:c.123-144_123-139dup	NP_001157285.1:n.123-144_123-139dup
NM_001163814.1:c.123-144_123-139dup	NP_001157286.1:n.123-144_123-139dup
NM_021830.4:c.1485-144_1485-139dup	NP_068602.2:n.1485-144_1485-139dup
XM_011539974.1:c.123-144_123-139dup	XP_011538276.1:n.123-144_123-139dup
XM_011539975.1:c.123-144_123-139dup	XP_011538277.1:n.123-144_123-139dup
XR_945788.1:n.2256-144_2256-139dup
XM_011539975.2:c.123-144_123-139dup	XP_011538277.1:n.123-144_123-139dup
XM_017016437.1:c.123-144_123-139dup	XP_016871926.1:n.123-144_123-139dup
XR_001747142.1:n.1659-144_1659-139dup
XR_001747144.1:n.1597-144_1597-139dup
XR_002956991.1:n.1597-144_1597-139dup
XR_945788.2:n.1597-144_1597-139dup
NM_021830.5:c.1485-144_1485-139dup MANE Select	NP_068602.2:n.1485-144_1485-139dup
NM_001163812.2:c.1485-144_1485-139dup	NP_001157284.1:n.1485-144_1485-139dup
NM_001163813.2:c.123-144_123-139dup	NP_001157285.1:n.123-144_123-139dup
NM_001163814.2:c.123-144_123-139dup	NP_001157286.1:n.123-144_123-139dup
NM_001368275.1:c.123-144_123-139dup	NP_001355204.1:n.123-144_123-139dup
NR_160738.1:n.2153-144_2153-139dup
NR_160739.1:n.313-144_313-139dup
NR_160740.1:n.2091-144_2091-139dup
NR_160741.1:n.2091-144_2091-139dup
NR_160742.1:n.2091-144_2091-139dup