Canonical Allele Identifier: CA803990631

Gene: SLC22A4

Linked Data

• dbSNP Id: rs1274962572
• gnomAD v3: 5-132297672-AAG-A
• gnomAD v4: 5-132297672-AAG-A
• MyVariant Identifiers: chr5:g.131633366_131633367del (hg19) ; chr5:g.132297673_132297674del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132297674_132297675del , CM000667.2:g.132297674_132297675del	GRCh38
NC_000005.9:g.131633367_131633368del , CM000667.1:g.131633367_131633368del	GRCh37
NC_000005.8:g.131661266_131661267del	NCBI36
NG_012129.1:g.8223_8224del
NG_012129.2:g.8223_8224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.393+2665_393+2666del MANE Select	ENSP00000200652.3:n.393+2665_393+2666del
ENST00000200652.3:c.393+2665_393+2666del	ENSP00000200652.3:n.393+2665_393+2666del
ENST00000491257.1:n.197+2053_197+2054del
NM_003059.2:c.393+2665_393+2666del	NP_003050.2:n.393+2665_393+2666del
XM_006714675.2:c.-32+2665_-32+2666del	XP_006714738.1:n.-32+2665_-32+2666del
XM_011543589.1:c.393+2665_393+2666del	XP_011541891.1:n.393+2665_393+2666del
XR_948289.1:n.1238+2053_1238+2054del
XM_006714675.4:c.-32+2665_-32+2666del	XP_006714738.1:n.-32+2665_-32+2666del
XM_011543589.2:c.393+2665_393+2666del	XP_011541891.1:n.393+2665_393+2666del
XM_017009776.1:c.-136+2053_-136+2054del	XP_016865265.1:n.-136+2053_-136+2054del
NM_003059.3:c.393+2665_393+2666del MANE Select	NP_003050.2:n.393+2665_393+2666del