Canonical Allele Identifier: CA994367668

Gene:

Linked Data

• dbSNP Id: rs2090126578
• gnomAD v3: 19-20217973-CCTTACA-C
• gnomAD v4: 19-20217973-CCTTACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20217978_20217983del , CM000681.2:g.20217978_20217983del	GRCh38
NC_000019.9:g.20328787_20328792del , CM000681.1:g.20328787_20328792del	GRCh37
NC_000019.8:g.20189787_20189792del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-663_619-658del
XR_936389.1:n.502-663_502-658del
XR_936390.1:n.511-663_511-658del
XR_936391.1:n.514-663_514-658del
XR_936392.1:n.514-663_514-658del
XR_936394.1:n.41-756_41-751del
XR_001754063.2:n.1506-663_1506-658del
XR_001754064.2:n.138-663_138-658del
XR_001754066.1:n.3912-663_3912-658del
XR_001754067.1:n.3912-663_3912-658del
XR_001754068.1:n.3912-663_3912-658del
XR_936394.2:n.41-756_41-751del
XR_936406.2:n.1411-663_1411-658del