Canonical Allele Identifier: CA2681939156

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19116581-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116581_19116582insTT , CM000669.2:g.19116581_19116582insTT	GRCh38
NC_000007.13:g.19156204_19156205insTT , CM000669.1:g.19156204_19156205insTT	GRCh37
NC_000007.12:g.19122729_19122730insTT	NCBI36
NG_008114.1:g.6091_6092insAA
NG_008114.2:g.6091_6092insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+89_*42+90insAA MANE Select	ENSP00000242261.5:n.*42+89_*42+90insAA
ENST00000242261.5:c.*42+89_*42+90insAA	ENSP00000242261.5:n.*42+89_*42+90insAA
ENST00000354571.5:c.448+89_448+90insAA
ENST00000443687.5:c.254+89_254+90insAA
NM_000474.3:c.*42+89_*42+90insAA	NP_000465.1:n.*42+89_*42+90insAA
XM_011515496.1:c.*42+89_*42+90insAA	XP_011513798.1:n.*42+89_*42+90insAA
NR_149001.1:n.1002+89_1002+90insAA
NM_000474.4:c.*42+89_*42+90insAA MANE Select	NP_000465.1:n.*42+89_*42+90insAA
NR_149001.2:n.966+89_966+90insAA