Canonical Allele Identifier: CA595643995

Gene: TWNK

Linked Data

• dbSNP Id: rs1304907160
• gnomAD v2: 10-102748528-TGACAC-T
• gnomAD v4: 10-100988771-TGACAC-T
• MyVariant Identifiers: chr10:g.102748529_102748533del (hg19) ; chr10:g.100988772_100988776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988772_100988776del , CM000672.2:g.100988772_100988776del	GRCh38
NC_000010.10:g.102748529_102748533del , CM000672.1:g.102748529_102748533del	GRCh37
NC_000010.9:g.102738519_102738523del	NCBI36
NG_011646.1:g.3740_3744del
NG_012624.1:g.6237_6241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.562_566del MANE Select	ENSP00000309595.2:p.Asp188ThrfsTer?
ENST00000370228.2:c.562_566del	ENSP00000359248.1:p.Asp188ThrfsTer?
ENST00000643860.1:c.562_566del	ENSP00000494389.1:p.Asp188ThrfsTer?
ENST00000646226.1:n.59-872_59-868del
ENST00000311916.6:c.562_566del	ENSP00000309595.2:p.Asp188ThrfsTer?
ENST00000370228.1:c.562_566del	ENSP00000359248.1:p.Asp188ThrfsTer?
ENST00000459764.1:n.87-872_87-868del
ENST00000473656.5:n.65-872_65-868del
ENST00000476766.5:n.192-934_192-930del
NM_001163812.1:c.562_566del	NP_001157284.1:p.Asp188ThrfsTer?
NM_001163813.1:c.-119-872_-119-868del	NP_001157285.1:n.-119-872_-119-868del
NM_001163814.1:c.-119-872_-119-868del	NP_001157286.1:n.-119-872_-119-868del
NM_021830.4:c.562_566del	NP_068602.2:p.Asp188ThrfsTer?
XM_011539975.1:c.-57-934_-57-930del	XP_011538277.1:n.-57-934_-57-930del
XR_945788.1:n.1395_1399del
XM_011539975.2:c.-57-934_-57-930del	XP_011538277.1:n.-57-934_-57-930del
XM_017016437.1:c.-739_-735del	XP_016871926.1:n.-739_-735del
XR_001747142.1:n.736_740del
XR_001747144.1:n.736_740del
XR_002956991.1:n.736_740del
XR_945788.2:n.736_740del
NM_021830.5:c.562_566del MANE Select	NP_068602.2:p.Asp188ThrfsTer?
NM_001163812.2:c.562_566del	NP_001157284.1:p.Asp188ThrfsTer?
NM_001163813.2:c.-119-872_-119-868del	NP_001157285.1:n.-119-872_-119-868del
NM_001163814.2:c.-119-872_-119-868del	NP_001157286.1:n.-119-872_-119-868del
NM_001368275.1:c.-57-934_-57-930del	NP_001355204.1:n.-57-934_-57-930del
NR_160738.1:n.1230_1234del
NR_160739.1:n.72-872_72-868del
NR_160740.1:n.1230_1234del
NR_160741.1:n.1230_1234del
NR_160742.1:n.1230_1234del