Canonical Allele Identifier: CA309669062

Gene:

Linked Data

• dbSNP Id: rs909893626
• gnomAD v3: 19-50837881-TTTTTG-T
• gnomAD v4: 19-50837881-TTTTTG-T
• MyVariant Identifiers: chr19:g.51341138_51341142del (hg19) ; chr19:g.50837882_50837886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837896_50837900del , CM000681.2:g.50837896_50837900del	GRCh38
NC_000019.9:g.51341152_51341156del , CM000681.1:g.51341152_51341156del	GRCh37
NC_000019.8:g.56032964_56032968del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6603_213+6607del
NR_131205.1:n.230+6603_230+6607del
XR_936030.1:n.298+6603_298+6607del
XR_936031.1:n.298+6603_298+6607del
XR_936032.1:n.298+6603_298+6607del
XR_936033.1:n.294+6603_294+6607del
XR_936035.1:n.281+6603_281+6607del