Canonical Allele Identifier: CA2694115331

Gene: SLC16A2

Linked Data

• gnomAD v4: X-74529447-G-GATATTCCCTCCCTGATTCATGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74529447_74529448insATATTCCCTCCCTGATTCATGCC , CM000685.2:g.74529447_74529448insATATTCCCTCCCTGATTCATGCC	GRCh38
NC_000023.10:g.73749282_73749283insATATTCCCTCCCTGATTCATGCC , CM000685.1:g.73749282_73749283insATATTCCCTCCCTGATTCATGCC	GRCh37
NC_000023.9:g.73666007_73666008insATATTCCCTCCCTGATTCATGCC	NCBI36
NG_011641.1:g.113198_113199insATATTCCCTCCCTGATTCATGCC
NG_011641.2:g.113198_113199insATATTCCCTCCCTGATTCATGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.1399+6_1399+7insATATTCCCTCCCTGATTCATGCC MANE Select	ENSP00000465734.1:n.1399+6_1399+7insATATTCCCTCCCTGATTCATGCC
ENST00000636771.1:c.1308+6_1308+7insATATTCCCTCCCTGATTCATGCC
ENST00000587091.5:c.1399+6_1399+7insATATTCCCTCCCTGATTCATGCC	ENSP00000465734.1:n.1399+6_1399+7insATATTCCCTCCCTGATTCATGCC
ENST00000590447.1:c.611-1886_611-1885insATATTCCCTCCCTGATTCATGCC
NM_006517.4:c.1399+6_1399+7insATATTCCCTCCCTGATTCATGCC	NP_006508.2:n.1399+6_1399+7insATATTCCCTCCCTGATTCATGCC
XM_005262294.1:c.1171-1886_1171-1885insATATTCCCTCCCTGATTCATGCC	XP_005262351.1:n.1171-1886_1171-1885insATATTCCCTCCCTGATTCATGC...
NM_006517.5:c.1399+6_1399+7insATATTCCCTCCCTGATTCATGCC MANE Select	NP_006508.2:n.1399+6_1399+7insATATTCCCTCCCTGATTCATGCC