Canonical Allele Identifier: CA2327233249

Gene:

Linked Data

• dbSNP Id: rs1268057943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218360_20218361del , CM000681.2:g.20218360_20218361del	GRCh38
NC_000019.9:g.20329169_20329170del , CM000681.1:g.20329169_20329170del	GRCh37
NC_000019.8:g.20190169_20190170del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-1041_619-1040del
XR_936389.1:n.502-1041_502-1040del
XR_936390.1:n.511-1041_511-1040del
XR_936391.1:n.514-1041_514-1040del
XR_936392.1:n.514-1041_514-1040del
XR_936394.1:n.41-374_41-373del
XR_001754063.2:n.1506-1041_1506-1040del
XR_001754064.2:n.138-1041_138-1040del
XR_001754066.1:n.3912-1041_3912-1040del
XR_001754067.1:n.3912-1041_3912-1040del
XR_001754068.1:n.3912-1041_3912-1040del
XR_936394.2:n.41-374_41-373del
XR_936406.2:n.1411-1041_1411-1040del