Canonical Allele Identifier: CA2681066174

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160154940-T-TGAGGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154940_160154941insGAGGGAGG , CM000668.2:g.160154940_160154941insGAGGGAGG	GRCh38
NC_000006.11:g.160575972_160575973insGAGGGAGG , CM000668.1:g.160575972_160575973insGAGGGAGG	GRCh37
NC_000006.10:g.160495962_160495963insGAGGGAGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1498+30_1498+31insGAGGGAGG MANE Select	ENSP00000355930.4:n.1498+30_1498+31insGAGGGAGG
ENST00000324965.8:c.1386-1035_1386-1034insGAGGGAGG	ENSP00000318103.4:n.1386-1035_1386-1034insGAGGGAGG
ENST00000366963.8:c.1498+30_1498+31insGAGGGAGG	ENSP00000355930.4:n.1498+30_1498+31insGAGGGAGG
ENST00000457470.6:c.1386-3576_1386-3575insGAGGGAGG	ENSP00000409557.2:n.1386-3576_1386-3575insGAGGGAGG
ENST00000460902.2:c.1283+30_1283+31insGAGGGAGG	ENSP00000439274.1:n.1283+30_1283+31insGAGGGAGG
ENST00000539263.5:c.*971+30_*971+31insGAGGGAGG	ENSP00000443245.1:n.*971+30_*971+31insGAGGGAGG
NM_003057.2:c.1498+30_1498+31insGAGGGAGG	NP_003048.1:n.1498+30_1498+31insGAGGGAGG
NM_153187.1:c.1386-1035_1386-1034insGAGGGAGG	NP_694857.1:n.1386-1035_1386-1034insGAGGGAGG
XM_005267102.3:c.1498+30_1498+31insGAGGGAGG	XP_005267159.1:n.1498+30_1498+31insGAGGGAGG
XM_005267103.1:c.1498+30_1498+31insGAGGGAGG	XP_005267160.1:n.1498+30_1498+31insGAGGGAGG
XM_005267104.3:c.922+30_922+31insGAGGGAGG	XP_005267161.1:n.922+30_922+31insGAGGGAGG
XM_005267105.3:c.922+30_922+31insGAGGGAGG	XP_005267162.1:n.922+30_922+31insGAGGGAGG
XM_006715552.1:c.1386-3576_1386-3575insGAGGGAGG	XP_006715615.1:n.1386-3576_1386-3575insGAGGGAGG
XM_011536074.1:c.922+30_922+31insGAGGGAGG	XP_011534376.1:n.922+30_922+31insGAGGGAGG
XM_005267102.5:c.1498+30_1498+31insGAGGGAGG	XP_005267159.1:n.1498+30_1498+31insGAGGGAGG
XM_005267103.2:c.1498+30_1498+31insGAGGGAGG	XP_005267160.1:n.1498+30_1498+31insGAGGGAGG
XM_005267104.5:c.922+30_922+31insGAGGGAGG	XP_005267161.1:n.922+30_922+31insGAGGGAGG
XM_005267105.5:c.922+30_922+31insGAGGGAGG	XP_005267162.1:n.922+30_922+31insGAGGGAGG
XM_006715552.2:c.1386-3576_1386-3575insGAGGGAGG	XP_006715615.1:n.1386-3576_1386-3575insGAGGGAGG
XM_011536074.3:c.922+30_922+31insGAGGGAGG	XP_011534376.1:n.922+30_922+31insGAGGGAGG
NM_003057.3:c.1498+30_1498+31insGAGGGAGG MANE Select	NP_003048.1:n.1498+30_1498+31insGAGGGAGG
NM_153187.2:c.1386-1035_1386-1034insGAGGGAGG	NP_694857.1:n.1386-1035_1386-1034insGAGGGAGG