Canonical Allele Identifier: CA2681939111

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19116551-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116554del , CM000669.2:g.19116554del	GRCh38
NC_000007.13:g.19156177del , CM000669.1:g.19156177del	GRCh37
NC_000007.12:g.19122702del	NCBI36
NG_008114.1:g.6121del
NG_008114.2:g.6121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+119del MANE Select	ENSP00000242261.5:n.*42+119del
ENST00000242261.5:c.*42+119del	ENSP00000242261.5:n.*42+119del
ENST00000354571.5:c.448+119del
ENST00000443687.5:c.254+119del
NM_000474.3:c.*42+119del	NP_000465.1:n.*42+119del
XM_011515496.1:c.*42+119del	XP_011513798.1:n.*42+119del
NR_149001.1:n.1002+119del
NM_000474.4:c.*42+119del MANE Select	NP_000465.1:n.*42+119del
NR_149001.2:n.966+119del