Canonical Allele Identifier: CA127210644

Gene: SLC22A4

Linked Data

• dbSNP Id: rs112170735
• gnomAD v2: 5-131633367-GAAAA-G
• gnomAD v3: 5-132297674-GAAAA-G
• gnomAD v4: 5-132297674-GAAAA-G
• MyVariant Identifiers: chr5:g.131633368_131633371del (hg19) ; chr5:g.132297675_132297678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132297681_132297684del , CM000667.2:g.132297681_132297684del	GRCh38
NC_000005.9:g.131633374_131633377del , CM000667.1:g.131633374_131633377del	GRCh37
NC_000005.8:g.131661273_131661276del	NCBI36
NG_012129.1:g.8230_8233del
NG_012129.2:g.8230_8233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.393+2672_393+2675del MANE Select	ENSP00000200652.3:n.393+2672_393+2675del
ENST00000200652.3:c.393+2672_393+2675del	ENSP00000200652.3:n.393+2672_393+2675del
ENST00000491257.1:n.197+2060_197+2063del
NM_003059.2:c.393+2672_393+2675del	NP_003050.2:n.393+2672_393+2675del
XM_006714675.2:c.-32+2672_-32+2675del	XP_006714738.1:n.-32+2672_-32+2675del
XM_011543589.1:c.393+2672_393+2675del	XP_011541891.1:n.393+2672_393+2675del
XR_948289.1:n.1238+2060_1238+2063del
XM_006714675.4:c.-32+2672_-32+2675del	XP_006714738.1:n.-32+2672_-32+2675del
XM_011543589.2:c.393+2672_393+2675del	XP_011541891.1:n.393+2672_393+2675del
XM_017009776.1:c.-136+2060_-136+2063del	XP_016865265.1:n.-136+2060_-136+2063del
NM_003059.3:c.393+2672_393+2675del MANE Select	NP_003050.2:n.393+2672_393+2675del