Canonical Allele Identifier: CA2610573761

Gene: TWNK

Linked Data

• gnomAD v4: 10-100990387-G-GGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990391_100990393dup , CM000672.2:g.100990391_100990393dup	GRCh38
NC_000010.10:g.102750148_102750150dup , CM000672.1:g.102750148_102750150dup	GRCh37
NC_000010.9:g.102740138_102740140dup	NCBI36
NG_011646.1:g.2126_2128dup
NG_012624.1:g.7856_7858dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1485-45_1485-43dup MANE Select	ENSP00000309595.2:n.1485-45_1485-43dup
ENST00000370228.2:c.1485-45_1485-43dup	ENSP00000359248.1:n.1485-45_1485-43dup
ENST00000643860.1:c.1485-45_1485-43dup	ENSP00000494389.1:n.1485-45_1485-43dup
ENST00000646226.1:n.300-45_300-43dup
ENST00000647109.1:c.144-45_144-43dup
ENST00000650396.1:c.446-45_446-43dup
ENST00000311916.6:c.1485-45_1485-43dup	ENSP00000309595.2:n.1485-45_1485-43dup
ENST00000370228.1:c.1485-45_1485-43dup	ENSP00000359248.1:n.1485-45_1485-43dup
ENST00000473656.5:n.306-45_306-43dup
ENST00000476766.5:n.371-45_371-43dup
NM_001163812.1:c.1485-45_1485-43dup	NP_001157284.1:n.1485-45_1485-43dup
NM_001163813.1:c.123-45_123-43dup	NP_001157285.1:n.123-45_123-43dup
NM_001163814.1:c.123-45_123-43dup	NP_001157286.1:n.123-45_123-43dup
NM_021830.4:c.1485-45_1485-43dup	NP_068602.2:n.1485-45_1485-43dup
XM_011539974.1:c.123-45_123-43dup	XP_011538276.1:n.123-45_123-43dup
XM_011539975.1:c.123-45_123-43dup	XP_011538277.1:n.123-45_123-43dup
XR_945788.1:n.2256-45_2256-43dup
XM_011539975.2:c.123-45_123-43dup	XP_011538277.1:n.123-45_123-43dup
XM_017016437.1:c.123-45_123-43dup	XP_016871926.1:n.123-45_123-43dup
XR_001747142.1:n.1659-45_1659-43dup
XR_001747144.1:n.1597-45_1597-43dup
XR_002956991.1:n.1597-45_1597-43dup
XR_945788.2:n.1597-45_1597-43dup
NM_021830.5:c.1485-45_1485-43dup MANE Select	NP_068602.2:n.1485-45_1485-43dup
NM_001163812.2:c.1485-45_1485-43dup	NP_001157284.1:n.1485-45_1485-43dup
NM_001163813.2:c.123-45_123-43dup	NP_001157285.1:n.123-45_123-43dup
NM_001163814.2:c.123-45_123-43dup	NP_001157286.1:n.123-45_123-43dup
NM_001368275.1:c.123-45_123-43dup	NP_001355204.1:n.123-45_123-43dup
NR_160738.1:n.2153-45_2153-43dup
NR_160739.1:n.313-45_313-43dup
NR_160740.1:n.2091-45_2091-43dup
NR_160741.1:n.2091-45_2091-43dup
NR_160742.1:n.2091-45_2091-43dup