Canonical Allele Identifier: CA155466540

Gene: TWIST1

Linked Data

• dbSNP Id: rs895146986
• gnomAD v3: 7-19116516-ACGCTGGGGG-A
• gnomAD v4: 7-19116516-ACGCTGGGGG-A
• MyVariant Identifiers: chr7:g.19156140_19156148del (hg19) ; chr7:g.19116517_19116525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116520_19116528del , CM000669.2:g.19116520_19116528del	GRCh38
NC_000007.13:g.19156143_19156151del , CM000669.1:g.19156143_19156151del	GRCh37
NC_000007.12:g.19122668_19122676del	NCBI36
NG_008114.1:g.6148_6156del
NG_008114.2:g.6148_6156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+146_*42+154del MANE Select	ENSP00000242261.5:n.*42+146_*42+154del
ENST00000242261.5:c.*42+146_*42+154del	ENSP00000242261.5:n.*42+146_*42+154del
ENST00000354571.5:c.448+146_448+154del
ENST00000443687.5:c.254+146_254+154del
NM_000474.3:c.*42+146_*42+154del	NP_000465.1:n.*42+146_*42+154del
XM_011515496.1:c.*42+146_*42+154del	XP_011513798.1:n.*42+146_*42+154del
NR_149001.1:n.1002+146_1002+154del
NM_000474.4:c.*42+146_*42+154del MANE Select	NP_000465.1:n.*42+146_*42+154del
NR_149001.2:n.966+146_966+154del