Canonical Allele Identifier: CA235400568

Gene: MUC19

Linked Data

• dbSNP Id: rs1034708295
• gnomAD v3: 12-40429119-CCTT-C
• gnomAD v4: 12-40429119-CCTT-C
• MyVariant Identifiers: chr12:g.40822922_40822924del (hg19) ; chr12:g.40429120_40429122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40429120_40429122del , CM000674.2:g.40429120_40429122del	GRCh38
NC_000012.11:g.40822922_40822924del , CM000674.1:g.40822922_40822924del	GRCh37
NC_000012.10:g.39109189_39109191del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454784.10:c.2397-422_2397-420del	ENSP00000508949.1:n.2397-422_2397-420del
ENST00000454784.9:n.2443-422_2443-420del
NM_173600.2:c.2397-422_2397-420del	NP_775871.2:n.2397-422_2397-420del
XR_944866.1:n.75-8811_75-8809del
XR_944867.1:n.75-8811_75-8809del
XR_944868.1:n.75-8811_75-8809del
XR_944869.1:n.75-8811_75-8809del
XR_944870.1:n.75-8811_75-8809del
XR_944871.1:n.75-8811_75-8809del
XR_944872.1:n.81-8811_81-8809del
XR_944873.1:n.75-8811_75-8809del
XR_001749087.1:n.75-8811_75-8809del
XR_001749088.1:n.75-8811_75-8809del
XR_944868.2:n.75-8811_75-8809del
XR_944869.2:n.75-8811_75-8809del