Canonical Allele Identifier: CA549707238
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs33929633
gnomAD v2: 4-4864404-C-CTTT
gnomAD v3: 4-4862677-C-CTTT
gnomAD v4: 4-4862677-C-CTTT
MyVariant Identifiers: chr4:g.4864405_4864406insTTT (hg19) chr4:g.4862678_4862679insTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862684_4862686dup , CM000666.2:g.4862684_4862686dup GRCh38
NC_000004.11:g.4864411_4864413dup , CM000666.1:g.4864411_4864413dup GRCh37
NC_000004.10:g.4915312_4915314dup NCBI36
NG_008121.1:g.8020_8022dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.470-17_470-15dup MANE Select ENSP00000372170.4:n.470-17_470-15dup
ENST00000382723.4:c.470-17_470-15dup ENSP00000372170.4:n.470-17_470-15dup
ENST00000468421.1:n.182-17_182-15dup
NM_002448.3:c.470-17_470-15dup MANE Select NP_002439.2:n.470-17_470-15dup
Search 100 bp 5'
Search 100 bp 3'