Canonical Allele Identifier: CA633718649

Gene:

Linked Data

• dbSNP Id: rs1162891215
• gnomAD v2: 19-51340790-ACACGG-A
• gnomAD v3: 19-50837534-ACACGG-A
• gnomAD v4: 19-50837534-ACACGG-A
• MyVariant Identifiers: chr19:g.51340791_51340795del (hg19) ; chr19:g.50837535_50837539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837539_50837543del , CM000681.2:g.50837539_50837543del	GRCh38
NC_000019.9:g.51340795_51340799del , CM000681.1:g.51340795_51340799del	GRCh37
NC_000019.8:g.56032607_56032611del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6246_213+6250del
NR_131205.1:n.230+6246_230+6250del
XR_936030.1:n.298+6246_298+6250del
XR_936031.1:n.298+6246_298+6250del
XR_936032.1:n.298+6246_298+6250del
XR_936033.1:n.294+6246_294+6250del
XR_936035.1:n.281+6246_281+6250del