Canonical Allele Identifier: CA1058779140
Gene: MSX1 HGNC NCBI

Linked Data

gnomAD v3: 4-4862677-C-CTTTTTTTTTTT
gnomAD v4: 4-4862677-C-CTTTTTTTTTTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862686_4862687insTTTTTTTTTTT , CM000666.2:g.4862686_4862687insTTTTTTTTTTT GRCh38
NC_000004.11:g.4864413_4864414insTTTTTTTTTTT , CM000666.1:g.4864413_4864414insTTTTTTTTTTT GRCh37
NC_000004.10:g.4915314_4915315insTTTTTTTTTTT NCBI36
NG_008121.1:g.8022_8023insTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.470-15_470-14insTTTTTTTTTTT MANE Select ENSP00000372170.4:n.470-15_470-14insTTTTTTTTTTT
ENST00000382723.4:c.470-15_470-14insTTTTTTTTTTT ENSP00000372170.4:n.470-15_470-14insTTTTTTTTTTT
ENST00000468421.1:n.182-15_182-14insTTTTTTTTTTT
NM_002448.3:c.470-15_470-14insTTTTTTTTTTT MANE Select NP_002439.2:n.470-15_470-14insTTTTTTTTTTT
Search 100 bp 5'
Search 100 bp 3'