Canonical Allele Identifier: CA2578839874

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19116663-G-GTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116664_19116665dup , CM000669.2:g.19116664_19116665dup	GRCh38
NC_000007.13:g.19156287_19156288dup , CM000669.1:g.19156287_19156288dup	GRCh37
NC_000007.12:g.19122812_19122813dup	NCBI36
NG_008114.1:g.6008_6009dup
NG_008114.2:g.6008_6009dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+6_*42+7dup MANE Select	ENSP00000242261.5:n.*42+6_*42+7dup
ENST00000242261.5:c.*42+6_*42+7dup	ENSP00000242261.5:n.*42+6_*42+7dup
ENST00000354571.5:c.448+6_448+7dup
ENST00000443687.5:c.254+6_254+7dup
NM_000474.3:c.*42+6_*42+7dup	NP_000465.1:n.*42+6_*42+7dup
XM_011515496.1:c.*42+6_*42+7dup	XP_011513798.1:n.*42+6_*42+7dup
NR_149001.1:n.1002+6_1002+7dup
NM_000474.4:c.*42+6_*42+7dup MANE Select	NP_000465.1:n.*42+6_*42+7dup
NR_149001.2:n.966+6_966+7dup