Canonical Allele Identifier: CA2681065327

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160139866-TGGTAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160139867_160139872del , CM000668.2:g.160139867_160139872del	GRCh38
NC_000006.11:g.160560899_160560904del , CM000668.1:g.160560899_160560904del	GRCh37
NC_000006.10:g.160480889_160480894del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1276_1276+5del
ENST00000324965.8:c.1276_1276+5del
ENST00000366963.8:c.1276_1276+5del
ENST00000457470.6:c.1276_1276+5del
ENST00000460902.2:c.1061+3217_1061+3222del	ENSP00000439274.1:n.1061+3217_1061+3222del
ENST00000539263.5:c.*749_*749+5del
NM_003057.2:c.1276_1276+5del
NM_153187.1:c.1276_1276+5del
XM_005267102.3:c.1276_1276+5del
XM_005267103.1:c.1276_1276+5del
XM_005267104.3:c.700_700+5del
XM_005267105.3:c.700_700+5del
XM_006715552.1:c.1276_1276+5del
XM_011536074.1:c.700_700+5del
XM_005267102.5:c.1276_1276+5del
XM_005267103.2:c.1276_1276+5del
XM_005267104.5:c.700_700+5del
XM_005267105.5:c.700_700+5del
XM_006715552.2:c.1276_1276+5del
XM_011536074.3:c.700_700+5del
NM_003057.3:c.1276_1276+5del
NM_153187.2:c.1276_1276+5del