Canonical Allele Identifier: CA1099032484

Gene: TWIST1

Linked Data

• dbSNP Id: rs1788569527
• gnomAD v3: 7-19116525-GCGC-G
• gnomAD v4: 7-19116525-GCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116526_19116528del , CM000669.2:g.19116526_19116528del	GRCh38
NC_000007.13:g.19156149_19156151del , CM000669.1:g.19156149_19156151del	GRCh37
NC_000007.12:g.19122674_19122676del	NCBI36
NG_008114.1:g.6145_6147del
NG_008114.2:g.6145_6147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+143_*42+145del MANE Select	ENSP00000242261.5:n.*42+143_*42+145del
ENST00000242261.5:c.*42+143_*42+145del	ENSP00000242261.5:n.*42+143_*42+145del
ENST00000354571.5:c.448+143_448+145del
ENST00000443687.5:c.254+143_254+145del
NM_000474.3:c.*42+143_*42+145del	NP_000465.1:n.*42+143_*42+145del
XM_011515496.1:c.*42+143_*42+145del	XP_011513798.1:n.*42+143_*42+145del
NR_149001.1:n.1002+143_1002+145del
NM_000474.4:c.*42+143_*42+145del MANE Select	NP_000465.1:n.*42+143_*42+145del
NR_149001.2:n.966+143_966+145del