Canonical Allele Identifier: CA2681065318

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160139864-CCTGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139865_160139869del , CM000668.2:g.160139865_160139869del	GRCh38
NC_000006.11:g.160560897_160560901del , CM000668.1:g.160560897_160560901del	GRCh37
NC_000006.10:g.160480887_160480891del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1274_1276+2del
ENST00000324965.8:c.1274_1276+2del
ENST00000366963.8:c.1274_1276+2del
ENST00000457470.6:c.1274_1276+2del
ENST00000460902.2:c.1061+3215_1061+3219del	ENSP00000439274.1:n.1061+3215_1061+3219del
ENST00000539263.5:c.*747_*749+2del
NM_003057.2:c.1274_1276+2del
NM_153187.1:c.1274_1276+2del
XM_005267102.3:c.1274_1276+2del
XM_005267103.1:c.1274_1276+2del
XM_005267104.3:c.698_700+2del
XM_005267105.3:c.698_700+2del
XM_006715552.1:c.1274_1276+2del
XM_011536074.1:c.698_700+2del
XM_005267102.5:c.1274_1276+2del
XM_005267103.2:c.1274_1276+2del
XM_005267104.5:c.698_700+2del
XM_005267105.5:c.698_700+2del
XM_006715552.2:c.1274_1276+2del
XM_011536074.3:c.698_700+2del
NM_003057.3:c.1274_1276+2del
NM_153187.2:c.1274_1276+2del