Canonical Allele Identifier: CA553243426

Gene:

Linked Data

• dbSNP Id: rs1561422339
• gnomAD v2: 4-90519308-ATGAAG-A
• gnomAD v3: 4-89598157-ATGAAG-A
• gnomAD v4: 4-89598157-ATGAAG-A
• MyVariant Identifiers: chr4:g.90519309_90519313del (hg19) ; chr4:g.89598158_89598162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89598162_89598166del , CM000666.2:g.89598162_89598166del	GRCh38
NC_000004.11:g.90519313_90519317del , CM000666.1:g.90519313_90519317del	GRCh37
NC_000004.10:g.90738336_90738340del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.298+10222_298+10226del
XR_938987.1:n.442_446del
XR_938988.1:n.308_312del
XR_938990.1:n.298+10222_298+10226del
XR_938991.1:n.298+10222_298+10226del
XR_938992.1:n.298+10222_298+10226del
XR_938994.1:n.643+10222_643+10226del
XR_938995.1:n.477+10222_477+10226del
XR_938996.1:n.298+10222_298+10226del
XR_938997.1:n.298+10222_298+10226del
XR_938986.2:n.323+10222_323+10226del
XR_938987.2:n.502_506del