Canonical Allele Identifier: CA2580062659

Gene: SLC9A1

Linked Data

• ClinVar Variation Id: 1929562
• ClinVar RCV Id: RCV002642395

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27101242_27101243delinsAA , CM000663.2:g.27101242_27101243delinsAA	GRCh38
NC_000001.10:g.27427733_27427734delinsAA , CM000663.1:g.27427733_27427734delinsAA	GRCh37
NC_000001.9:g.27300320_27300321delinsAA	NCBI36
NG_030006.1:g.58718_58719delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263980.8:c.2070_2071delinsTT MANE Select	ENSP00000263980.3:p.Lys690Asn
ENST00000263980.7:c.2070_2071delinsTT	ENSP00000263980.3:p.Lys690Asn
ENST00000374089.5:n.1295_1296delinsTT
ENST00000447808.1:n.547_548delinsTT
NM_003047.4:c.2070_2071delinsTT	NP_003038.2:p.Lys690Asn
NR_046474.1:n.2405_2406delinsTT
XM_011542021.1:c.1740_1741delinsTT	XP_011540323.1:p.Lys580Asn
XM_011542021.3:c.1740_1741delinsTT	XP_011540323.1:p.Lys580Asn
NM_003047.5:c.2070_2071delinsTT MANE Select	NP_003038.2:p.Lys690Asn
NR_046474.2:n.2400_2401delinsTT