Canonical Allele Identifier: CA3707233

Gene: MUC21

Linked Data

• ClinVar Variation Id: 243064
• ClinVar RCV Id: RCV000235048
• dbSNP Id: rs772843697
• ExAC: 6:30954616 GC / G
• gnomAD v2: 6-30954616-GC-G
• gnomAD v3: 6-30986839-GC-G
• gnomAD v4: 6-30986839-GC-G
• MyVariant Identifiers: chr6:g.30954617del (hg19) ; chr6:g.30986840del (hg38)
• PubMed: PMID:26788539

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30986840del , CM000668.2:g.30986840del	GRCh38
NC_000006.11:g.30954617del , CM000668.1:g.30954617del	GRCh37
NC_000006.10:g.31062596del	NCBI36
NG_054937.1:g.8133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376296.3:c.665del MANE Select	ENSP00000365473.3:p.Ala222ValfsTer?
ENST00000486149.2:c.-698del	ENSP00000457640.1:n.-698del
NM_001010909.3:c.665del	NP_001010909.2:p.Ala222ValfsTer?
NR_130720.1:n.1058del
NM_001010909.4:c.665del	NP_001010909.2:p.Ala222ValfsTer?
NR_130720.2:n.1058del
NM_001010909.5:c.665del MANE Select	NP_001010909.2:p.Ala222ValfsTer?
NR_130720.3:n.1048del