Canonical Allele Identifier: CA2681066206

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160154984-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154985_160154987del , CM000668.2:g.160154985_160154987del	GRCh38
NC_000006.11:g.160576017_160576019del , CM000668.1:g.160576017_160576019del	GRCh37
NC_000006.10:g.160496007_160496009del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1498+75_1498+77del MANE Select	ENSP00000355930.4:n.1498+75_1498+77del
ENST00000324965.8:c.1386-990_1386-988del	ENSP00000318103.4:n.1386-990_1386-988del
ENST00000366963.8:c.1498+75_1498+77del	ENSP00000355930.4:n.1498+75_1498+77del
ENST00000457470.6:c.1386-3531_1386-3529del	ENSP00000409557.2:n.1386-3531_1386-3529del
ENST00000460902.2:c.1283+75_1283+77del	ENSP00000439274.1:n.1283+75_1283+77del
ENST00000539263.5:c.*971+75_*971+77del	ENSP00000443245.1:n.*971+75_*971+77del
NM_003057.2:c.1498+75_1498+77del	NP_003048.1:n.1498+75_1498+77del
NM_153187.1:c.1386-990_1386-988del	NP_694857.1:n.1386-990_1386-988del
XM_005267102.3:c.1498+75_1498+77del	XP_005267159.1:n.1498+75_1498+77del
XM_005267103.1:c.1498+75_1498+77del	XP_005267160.1:n.1498+75_1498+77del
XM_005267104.3:c.922+75_922+77del	XP_005267161.1:n.922+75_922+77del
XM_005267105.3:c.922+75_922+77del	XP_005267162.1:n.922+75_922+77del
XM_006715552.1:c.1386-3531_1386-3529del	XP_006715615.1:n.1386-3531_1386-3529del
XM_011536074.1:c.922+75_922+77del	XP_011534376.1:n.922+75_922+77del
XM_005267102.5:c.1498+75_1498+77del	XP_005267159.1:n.1498+75_1498+77del
XM_005267103.2:c.1498+75_1498+77del	XP_005267160.1:n.1498+75_1498+77del
XM_005267104.5:c.922+75_922+77del	XP_005267161.1:n.922+75_922+77del
XM_005267105.5:c.922+75_922+77del	XP_005267162.1:n.922+75_922+77del
XM_006715552.2:c.1386-3531_1386-3529del	XP_006715615.1:n.1386-3531_1386-3529del
XM_011536074.3:c.922+75_922+77del	XP_011534376.1:n.922+75_922+77del
NM_003057.3:c.1498+75_1498+77del MANE Select	NP_003048.1:n.1498+75_1498+77del
NM_153187.2:c.1386-990_1386-988del	NP_694857.1:n.1386-990_1386-988del