Canonical Allele Identifier: CA506174778

Gene:

Linked Data

• dbSNP Id: rs782771163
• gnomAD v3: 19-20218132-TTTC-T
• gnomAD v4: 19-20218132-TTTC-T
• MyVariant Identifiers: chr19:g.20328942_20328944del (hg19) ; chr19:g.20218133_20218135del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218135_20218137del , CM000681.2:g.20218135_20218137del	GRCh38
NC_000019.9:g.20328944_20328946del , CM000681.1:g.20328944_20328946del	GRCh37
NC_000019.8:g.20189944_20189946del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-819_619-817del
XR_936389.1:n.502-819_502-817del
XR_936390.1:n.511-819_511-817del
XR_936391.1:n.514-819_514-817del
XR_936392.1:n.514-819_514-817del
XR_936394.1:n.41-599_41-597del
XR_001754063.2:n.1506-819_1506-817del
XR_001754064.2:n.138-819_138-817del
XR_001754066.1:n.3912-819_3912-817del
XR_001754067.1:n.3912-819_3912-817del
XR_001754068.1:n.3912-819_3912-817del
XR_936394.2:n.41-599_41-597del
XR_936406.2:n.1411-819_1411-817del