Canonical Allele Identifier: CA323577561

Gene:

Linked Data

• dbSNP Id: rs889981167
• gnomAD v3: 22-36129825-C-CT
• gnomAD v4: 22-36129825-C-CT
• MyVariant Identifiers: chr22:g.36525873_36525874insT (hg19) ; chr22:g.36129825_36129826insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129830dup , CM000684.2:g.36129830dup	GRCh38
NC_000022.10:g.36525878dup , CM000684.1:g.36525878dup	GRCh37
NC_000022.9:g.34855824dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3336dup
XR_938219.1:n.3110dup
XR_938220.1:n.3110dup
XR_938221.1:n.1471+4036dup
XR_001755516.2:n.4972dup
XR_001755517.2:n.3199dup
XR_001755518.2:n.4972dup
XR_001755519.2:n.4972dup
XR_001755520.2:n.4972dup
XR_001755521.2:n.4972dup
XR_001755522.2:n.1637-2053dup
XR_001755525.2:n.1637-472dup
XR_001755526.2:n.1637-2053dup
XR_430441.4:n.1636+3336dup