Canonical Allele Identifier: CA4174440

Gene: TWIST1

Linked Data

• dbSNP Id: rs753401350
• ExAC: 7:19156292 A / AC
• gnomAD v2: 7-19156292-A-AC
• gnomAD v4: 7-19116669-A-AC
• MyVariant Identifiers: chr7:g.19156292_19156293insC (hg19) ; chr7:g.19116669_19116670insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116671dup , CM000669.2:g.19116671dup	GRCh38
NC_000007.13:g.19156294dup , CM000669.1:g.19156294dup	GRCh37
NC_000007.12:g.19122819dup	NCBI36
NG_008114.1:g.6003dup
NG_008114.2:g.6003dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+1dup
ENST00000242261.5:c.*42+1dup
ENST00000354571.5:c.448+1dup
ENST00000443687.5:c.254+1dup
NM_000474.3:c.*42+1dup
XM_011515496.1:c.*42+1dup
NR_149001.1:n.1002+1dup
NM_000474.4:c.*42+1dup
NR_149001.2:n.966+1dup