Canonical Allele Identifier: CA2610574301

Gene: TWNK

Linked Data

• gnomAD v4: 10-100990713-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990715del , CM000672.2:g.100990715del	GRCh38
NC_000010.10:g.102750472del , CM000672.1:g.102750472del	GRCh37
NC_000010.9:g.102740462del	NCBI36
NG_011646.1:g.1802del
NG_012624.1:g.8180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1593-154del MANE Select	ENSP00000309595.2:n.1593-154del
ENST00000370228.2:c.1593-154del	ENSP00000359248.1:n.1593-154del
ENST00000643860.1:c.*116+52del	ENSP00000494389.1:n.*116+52del
ENST00000646226.1:n.408-154del
ENST00000647109.1:c.252-154del
ENST00000650396.1:c.673+52del
ENST00000311916.6:c.1593-154del	ENSP00000309595.2:n.1593-154del
ENST00000370228.1:c.1593-154del	ENSP00000359248.1:n.1593-154del
ENST00000473656.5:n.414-154del
ENST00000476766.5:n.479-154del
NM_001163812.1:c.1593-154del	NP_001157284.1:n.1593-154del
NM_001163813.1:c.231-154del	NP_001157285.1:n.231-154del
NM_001163814.1:c.231-154del	NP_001157286.1:n.231-154del
NM_021830.4:c.1593-154del	NP_068602.2:n.1593-154del
XM_011539974.1:c.231-154del	XP_011538276.1:n.231-154del
XM_011539975.1:c.231-154del	XP_011538277.1:n.231-154del
XR_945788.1:n.2364-154del
XM_011539975.2:c.231-154del	XP_011538277.1:n.231-154del
XM_017016437.1:c.231-154del	XP_016871926.1:n.231-154del
XR_001747142.1:n.1886+52del
XR_001747144.1:n.1824+52del
XR_002956991.1:n.1705-154del
XR_945788.2:n.1705-154del
NM_021830.5:c.1593-154del MANE Select	NP_068602.2:n.1593-154del
NM_001163812.2:c.1593-154del	NP_001157284.1:n.1593-154del
NM_001163813.2:c.231-154del	NP_001157285.1:n.231-154del
NM_001163814.2:c.231-154del	NP_001157286.1:n.231-154del
NM_001368275.1:c.231-154del	NP_001355204.1:n.231-154del
NR_160738.1:n.2380+52del
NR_160739.1:n.540+52del
NR_160740.1:n.2199-154del
NR_160741.1:n.2199-154del
NR_160742.1:n.2318+52del