Canonical Allele Identifier: CA2681066173

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160154939-C-CAAACAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154939_160154940insAAACAAAA , CM000668.2:g.160154939_160154940insAAACAAAA	GRCh38
NC_000006.11:g.160575971_160575972insAAACAAAA , CM000668.1:g.160575971_160575972insAAACAAAA	GRCh37
NC_000006.10:g.160495961_160495962insAAACAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1498+29_1498+30insAAACAAAA MANE Select	ENSP00000355930.4:n.1498+29_1498+30insAAACAAAA
ENST00000324965.8:c.1386-1036_1386-1035insAAACAAAA	ENSP00000318103.4:n.1386-1036_1386-1035insAAACAAAA
ENST00000366963.8:c.1498+29_1498+30insAAACAAAA	ENSP00000355930.4:n.1498+29_1498+30insAAACAAAA
ENST00000457470.6:c.1386-3577_1386-3576insAAACAAAA	ENSP00000409557.2:n.1386-3577_1386-3576insAAACAAAA
ENST00000460902.2:c.1283+29_1283+30insAAACAAAA	ENSP00000439274.1:n.1283+29_1283+30insAAACAAAA
ENST00000539263.5:c.*971+29_*971+30insAAACAAAA	ENSP00000443245.1:n.*971+29_*971+30insAAACAAAA
NM_003057.2:c.1498+29_1498+30insAAACAAAA	NP_003048.1:n.1498+29_1498+30insAAACAAAA
NM_153187.1:c.1386-1036_1386-1035insAAACAAAA	NP_694857.1:n.1386-1036_1386-1035insAAACAAAA
XM_005267102.3:c.1498+29_1498+30insAAACAAAA	XP_005267159.1:n.1498+29_1498+30insAAACAAAA
XM_005267103.1:c.1498+29_1498+30insAAACAAAA	XP_005267160.1:n.1498+29_1498+30insAAACAAAA
XM_005267104.3:c.922+29_922+30insAAACAAAA	XP_005267161.1:n.922+29_922+30insAAACAAAA
XM_005267105.3:c.922+29_922+30insAAACAAAA	XP_005267162.1:n.922+29_922+30insAAACAAAA
XM_006715552.1:c.1386-3577_1386-3576insAAACAAAA	XP_006715615.1:n.1386-3577_1386-3576insAAACAAAA
XM_011536074.1:c.922+29_922+30insAAACAAAA	XP_011534376.1:n.922+29_922+30insAAACAAAA
XM_005267102.5:c.1498+29_1498+30insAAACAAAA	XP_005267159.1:n.1498+29_1498+30insAAACAAAA
XM_005267103.2:c.1498+29_1498+30insAAACAAAA	XP_005267160.1:n.1498+29_1498+30insAAACAAAA
XM_005267104.5:c.922+29_922+30insAAACAAAA	XP_005267161.1:n.922+29_922+30insAAACAAAA
XM_005267105.5:c.922+29_922+30insAAACAAAA	XP_005267162.1:n.922+29_922+30insAAACAAAA
XM_006715552.2:c.1386-3577_1386-3576insAAACAAAA	XP_006715615.1:n.1386-3577_1386-3576insAAACAAAA
XM_011536074.3:c.922+29_922+30insAAACAAAA	XP_011534376.1:n.922+29_922+30insAAACAAAA
NM_003057.3:c.1498+29_1498+30insAAACAAAA MANE Select	NP_003048.1:n.1498+29_1498+30insAAACAAAA
NM_153187.2:c.1386-1036_1386-1035insAAACAAAA	NP_694857.1:n.1386-1036_1386-1035insAAACAAAA