Canonical Allele Identifier: CA836405820

Gene: TWIST1

Linked Data

• dbSNP Id: rs1487182960
• gnomAD v4: 7-19116528-C-CTG
• MyVariant Identifiers: chr7:g.19156151_19156152insTG (hg19) ; chr7:g.19116528_19116529insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116528_19116529insTG , CM000669.2:g.19116528_19116529insTG	GRCh38
NC_000007.13:g.19156151_19156152insTG , CM000669.1:g.19156151_19156152insTG	GRCh37
NC_000007.12:g.19122676_19122677insTG	NCBI36
NG_008114.1:g.6144_6145insCA
NG_008114.2:g.6144_6145insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+142_*42+143insCA MANE Select	ENSP00000242261.5:n.*42+142_*42+143insCA
ENST00000242261.5:c.*42+142_*42+143insCA	ENSP00000242261.5:n.*42+142_*42+143insCA
ENST00000354571.5:c.448+142_448+143insCA
ENST00000443687.5:c.254+142_254+143insCA
NM_000474.3:c.*42+142_*42+143insCA	NP_000465.1:n.*42+142_*42+143insCA
XM_011515496.1:c.*42+142_*42+143insCA	XP_011513798.1:n.*42+142_*42+143insCA
NR_149001.1:n.1002+142_1002+143insCA
NM_000474.4:c.*42+142_*42+143insCA MANE Select	NP_000465.1:n.*42+142_*42+143insCA
NR_149001.2:n.966+142_966+143insCA