Canonical Allele Identifier: CA2833046

Gene: MSX1

Linked Data

• dbSNP Id: rs33929633
• ExAC: 4:4864404 CT / C
• gnomAD v2: 4-4864404-CT-C
• gnomAD v3: 4-4862677-CT-C
• gnomAD v4: 4-4862677-CT-C
• COSMIC: COSN19657061
• MyVariant Identifiers: chr4:g.4864405del (hg19) ; chr4:g.4862678del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.470-15del MANE Select	ENSP00000372170.4:n.470-15del
ENST00000382723.4:c.470-15del	ENSP00000372170.4:n.470-15del
ENST00000468421.1:n.182-15del
NM_002448.3:c.470-15del MANE Select	NP_002439.2:n.470-15del