Canonical Allele Identifier: CA604521879

Gene: MUC19

Linked Data

• dbSNP Id: rs1297294626
• gnomAD v2: 12-40823435-G-GTT
• gnomAD v4: 12-40429633-G-GTT
• MyVariant Identifiers: chr12:g.40823435_40823436insTT (hg19) ; chr12:g.40429633_40429634insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40429634_40429635dup , CM000674.2:g.40429634_40429635dup	GRCh38
NC_000012.11:g.40823436_40823437dup , CM000674.1:g.40823436_40823437dup	GRCh37
NC_000012.10:g.39109703_39109704dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454784.10:c.2489_2490dup	ENSP00000508949.1:p.Lys831LeufsTer?
ENST00000454784.9:n.2535_2536dup
NM_173600.2:c.2489_2490dup	NP_775871.2:p.Lys831LeufsTer?
XR_944866.1:n.75-9324_75-9323dup
XR_944867.1:n.75-9324_75-9323dup
XR_944868.1:n.75-9324_75-9323dup
XR_944869.1:n.75-9324_75-9323dup
XR_944870.1:n.75-9324_75-9323dup
XR_944871.1:n.75-9324_75-9323dup
XR_944872.1:n.81-9324_81-9323dup
XR_944873.1:n.75-9324_75-9323dup
XR_001749087.1:n.75-9324_75-9323dup
XR_001749088.1:n.75-9324_75-9323dup
XR_944868.2:n.75-9324_75-9323dup
XR_944869.2:n.75-9324_75-9323dup