Canonical Allele Identifier: CA752803694

Gene:

Linked Data

• dbSNP Id: rs1363377183
• gnomAD v3: 22-36129867-CTA-C
• gnomAD v4: 22-36129867-CTA-C
• MyVariant Identifiers: chr22:g.36525916_36525917del (hg19) ; chr22:g.36129868_36129869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129868_36129869del , CM000684.2:g.36129868_36129869del	GRCh38
NC_000022.10:g.36525916_36525917del , CM000684.1:g.36525916_36525917del	GRCh37
NC_000022.9:g.34855862_34855863del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3293_1547+3294del
XR_938219.1:n.3067_3068del
XR_938220.1:n.3067_3068del
XR_938221.1:n.1471+3993_1471+3994del
XR_001755516.2:n.4929_4930del
XR_001755517.2:n.3156_3157del
XR_001755518.2:n.4929_4930del
XR_001755519.2:n.4929_4930del
XR_001755520.2:n.4929_4930del
XR_001755521.2:n.4929_4930del
XR_001755522.2:n.1637-2096_1637-2095del
XR_001755525.2:n.1637-515_1637-514del
XR_001755526.2:n.1637-2096_1637-2095del
XR_430441.4:n.1636+3293_1636+3294del