Canonical Allele Identifier: CA506174777

Gene:

Linked Data

• dbSNP Id: rs375057178
• gnomAD v2: 19-20328885-TACAGAAGAA-T
• gnomAD v3: 19-20218076-TACAGAAGAA-T
• gnomAD v4: 19-20218076-TACAGAAGAA-T
• MyVariant Identifiers: chr19:g.20328886_20328894del (hg19) ; chr19:g.20218077_20218085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218084_20218092del , CM000681.2:g.20218084_20218092del	GRCh38
NC_000019.9:g.20328893_20328901del , CM000681.1:g.20328893_20328901del	GRCh37
NC_000019.8:g.20189893_20189901del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-769_619-761del
XR_936389.1:n.502-769_502-761del
XR_936390.1:n.511-769_511-761del
XR_936391.1:n.514-769_514-761del
XR_936392.1:n.514-769_514-761del
XR_936394.1:n.41-650_41-642del
XR_001754063.2:n.1506-769_1506-761del
XR_001754064.2:n.138-769_138-761del
XR_001754066.1:n.3912-769_3912-761del
XR_001754067.1:n.3912-769_3912-761del
XR_001754068.1:n.3912-769_3912-761del
XR_936394.2:n.41-650_41-642del
XR_936406.2:n.1411-769_1411-761del