Canonical Allele Identifier: CA658908515

Gene: TWNK

Linked Data

• dbSNP Id: rs1175195730
• MyVariant Identifiers: chr10:g.102750444_102750445del (hg19) ; chr10:g.100990687_100990688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990687_100990688del , CM000672.2:g.100990687_100990688del	GRCh38
NC_000010.10:g.102750444_102750445del , CM000672.1:g.102750444_102750445del	GRCh37
NC_000010.9:g.102740434_102740435del	NCBI36
NG_011646.1:g.1828_1829del
NG_012624.1:g.8152_8153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+144_1592+145del MANE Select	ENSP00000309595.2:n.1592+144_1592+145del
ENST00000370228.2:c.1592+144_1592+145del	ENSP00000359248.1:n.1592+144_1592+145del
ENST00000643860.1:c.*116+24_*116+25del	ENSP00000494389.1:n.*116+24_*116+25del
ENST00000646226.1:n.407+144_407+145del
ENST00000647109.1:c.251+144_251+145del
ENST00000650396.1:c.673+24_673+25del
ENST00000311916.6:c.1592+144_1592+145del	ENSP00000309595.2:n.1592+144_1592+145del
ENST00000370228.1:c.1592+144_1592+145del	ENSP00000359248.1:n.1592+144_1592+145del
ENST00000473656.5:n.413+144_413+145del
ENST00000476766.5:n.478+144_478+145del
NM_001163812.1:c.1592+144_1592+145del	NP_001157284.1:n.1592+144_1592+145del
NM_001163813.1:c.230+144_230+145del	NP_001157285.1:n.230+144_230+145del
NM_001163814.1:c.230+144_230+145del	NP_001157286.1:n.230+144_230+145del
NM_021830.4:c.1592+144_1592+145del	NP_068602.2:n.1592+144_1592+145del
XM_011539974.1:c.230+144_230+145del	XP_011538276.1:n.230+144_230+145del
XM_011539975.1:c.230+144_230+145del	XP_011538277.1:n.230+144_230+145del
XR_945788.1:n.2363+144_2363+145del
XM_011539975.2:c.230+144_230+145del	XP_011538277.1:n.230+144_230+145del
XM_017016437.1:c.230+144_230+145del	XP_016871926.1:n.230+144_230+145del
XR_001747142.1:n.1886+24_1886+25del
XR_001747144.1:n.1824+24_1824+25del
XR_002956991.1:n.1704+144_1704+145del
XR_945788.2:n.1704+144_1704+145del
NM_021830.5:c.1592+144_1592+145del MANE Select	NP_068602.2:n.1592+144_1592+145del
NM_001163812.2:c.1592+144_1592+145del	NP_001157284.1:n.1592+144_1592+145del
NM_001163813.2:c.230+144_230+145del	NP_001157285.1:n.230+144_230+145del
NM_001163814.2:c.230+144_230+145del	NP_001157286.1:n.230+144_230+145del
NM_001368275.1:c.230+144_230+145del	NP_001355204.1:n.230+144_230+145del
NR_160738.1:n.2380+24_2380+25del
NR_160739.1:n.540+24_540+25del
NR_160740.1:n.2198+144_2198+145del
NR_160741.1:n.2198+144_2198+145del
NR_160742.1:n.2318+24_2318+25del