Canonical Allele Identifier: CA2681939162

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19116584-G-GGGTCGGGGTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116584_19116585insGGTCGGGGTCT , CM000669.2:g.19116584_19116585insGGTCGGGGTCT	GRCh38
NC_000007.13:g.19156207_19156208insGGTCGGGGTCT , CM000669.1:g.19156207_19156208insGGTCGGGGTCT	GRCh37
NC_000007.12:g.19122732_19122733insGGTCGGGGTCT	NCBI36
NG_008114.1:g.6088_6089insAGACCCCGACC
NG_008114.2:g.6088_6089insAGACCCCGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+86_*42+87insAGACCCCGACC MANE Select	ENSP00000242261.5:n.*42+86_*42+87insAGACCCCGACC
ENST00000242261.5:c.*42+86_*42+87insAGACCCCGACC	ENSP00000242261.5:n.*42+86_*42+87insAGACCCCGACC
ENST00000354571.5:c.448+86_448+87insAGACCCCGACC
ENST00000443687.5:c.254+86_254+87insAGACCCCGACC
NM_000474.3:c.*42+86_*42+87insAGACCCCGACC	NP_000465.1:n.*42+86_*42+87insAGACCCCGACC
XM_011515496.1:c.*42+86_*42+87insAGACCCCGACC	XP_011513798.1:n.*42+86_*42+87insAGACCCCGACC
NR_149001.1:n.1002+86_1002+87insAGACCCCGACC
NM_000474.4:c.*42+86_*42+87insAGACCCCGACC MANE Select	NP_000465.1:n.*42+86_*42+87insAGACCCCGACC
NR_149001.2:n.966+86_966+87insAGACCCCGACC