Canonical Allele Identifier: CA632429693

Gene:

Linked Data

• dbSNP Id: rs1194037611
• gnomAD v2: 19-20329067-C-CT
• gnomAD v3: 19-20218258-C-CT
• gnomAD v4: 19-20218258-C-CT
• MyVariant Identifiers: chr19:g.20329067_20329068insT (hg19) ; chr19:g.20218258_20218259insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218266dup , CM000681.2:g.20218266dup	GRCh38
NC_000019.9:g.20329075dup , CM000681.1:g.20329075dup	GRCh37
NC_000019.8:g.20190075dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-943dup
XR_936389.1:n.502-943dup
XR_936390.1:n.511-943dup
XR_936391.1:n.514-943dup
XR_936392.1:n.514-943dup
XR_936394.1:n.41-468dup
XR_001754063.2:n.1506-943dup
XR_001754064.2:n.138-943dup
XR_001754066.1:n.3912-943dup
XR_001754067.1:n.3912-943dup
XR_001754068.1:n.3912-943dup
XR_936394.2:n.41-468dup
XR_936406.2:n.1411-943dup