Canonical Allele Identifier: CA799758317

Gene:

Linked Data

• dbSNP Id: rs1248057752
• gnomAD v3: 4-89598030-GATA-G
• gnomAD v4: 4-89598030-GATA-G
• MyVariant Identifiers: chr4:g.90519182_90519184del (hg19) ; chr4:g.89598031_89598033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89598031_89598033del , CM000666.2:g.89598031_89598033del	GRCh38
NC_000004.11:g.90519182_90519184del , CM000666.1:g.90519182_90519184del	GRCh37
NC_000004.10:g.90738205_90738207del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.298+10091_298+10093del
XR_938987.1:n.433-122_433-120del
XR_938988.1:n.299-122_299-120del
XR_938990.1:n.298+10091_298+10093del
XR_938991.1:n.298+10091_298+10093del
XR_938992.1:n.298+10091_298+10093del
XR_938994.1:n.643+10091_643+10093del
XR_938995.1:n.477+10091_477+10093del
XR_938996.1:n.298+10091_298+10093del
XR_938997.1:n.298+10091_298+10093del
XR_938986.2:n.323+10091_323+10093del
XR_938987.2:n.493-122_493-120del