Canonical Allele Identifier: CA506174779

Gene:

Linked Data

• dbSNP Id: rs557593708
• gnomAD v2: 19-20329284-TCTA-T
• gnomAD v3: 19-20218475-TCTA-T
• gnomAD v4: 19-20218475-TCTA-T
• MyVariant Identifiers: chr19:g.20329285_20329287del (hg19) ; chr19:g.20218476_20218478del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218479_20218481del , CM000681.2:g.20218479_20218481del	GRCh38
NC_000019.9:g.20329288_20329290del , CM000681.1:g.20329288_20329290del	GRCh37
NC_000019.8:g.20190288_20190290del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-1162_619-1160del
XR_936389.1:n.502-1162_502-1160del
XR_936390.1:n.511-1162_511-1160del
XR_936391.1:n.514-1162_514-1160del
XR_936392.1:n.514-1162_514-1160del
XR_936394.1:n.41-255_41-253del
XR_001754063.2:n.1506-1162_1506-1160del
XR_001754064.2:n.138-1162_138-1160del
XR_001754066.1:n.3912-1162_3912-1160del
XR_001754067.1:n.3912-1162_3912-1160del
XR_001754068.1:n.3912-1162_3912-1160del
XR_936394.2:n.41-255_41-253del
XR_936406.2:n.1411-1162_1411-1160del