Canonical Allele Identifier: CA2681066177

Gene: SLC22A1

Linked Data

• gnomAD v4: 6-160154943-T-TGGCAAGCCTTGCCCCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160154943_160154944insGGCAAGCCTTGCCCCTCA , CM000668.2:g.160154943_160154944insGGCAAGCCTTGCCCCTCA	GRCh38
NC_000006.11:g.160575975_160575976insGGCAAGCCTTGCCCCTCA , CM000668.1:g.160575975_160575976insGGCAAGCCTTGCCCCTCA	GRCh37
NC_000006.10:g.160495965_160495966insGGCAAGCCTTGCCCCTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366963.9:c.1498+33_1498+34insGGCAAGCCTTGCCCCTCA MANE Select	ENSP00000355930.4:n.1498+33_1498+34insGGCAAGCCTTGCCCCTCA
ENST00000324965.8:c.1386-1032_1386-1031insGGCAAGCCTTGCCCCTCA	ENSP00000318103.4:n.1386-1032_1386-1031insGGCAAGCCTTGCCCCTCA
ENST00000366963.8:c.1498+33_1498+34insGGCAAGCCTTGCCCCTCA	ENSP00000355930.4:n.1498+33_1498+34insGGCAAGCCTTGCCCCTCA
ENST00000457470.6:c.1386-3573_1386-3572insGGCAAGCCTTGCCCCTCA	ENSP00000409557.2:n.1386-3573_1386-3572insGGCAAGCCTTGCCCCTCA
ENST00000460902.2:c.1283+33_1283+34insGGCAAGCCTTGCCCCTCA	ENSP00000439274.1:n.1283+33_1283+34insGGCAAGCCTTGCCCCTCA
ENST00000539263.5:c.*971+33_*971+34insGGCAAGCCTTGCCCCTCA	ENSP00000443245.1:n.*971+33_*971+34insGGCAAGCCTTGCCCCTCA
NM_003057.2:c.1498+33_1498+34insGGCAAGCCTTGCCCCTCA	NP_003048.1:n.1498+33_1498+34insGGCAAGCCTTGCCCCTCA
NM_153187.1:c.1386-1032_1386-1031insGGCAAGCCTTGCCCCTCA	NP_694857.1:n.1386-1032_1386-1031insGGCAAGCCTTGCCCCTCA
XM_005267102.3:c.1498+33_1498+34insGGCAAGCCTTGCCCCTCA	XP_005267159.1:n.1498+33_1498+34insGGCAAGCCTTGCCCCTCA
XM_005267103.1:c.1498+33_1498+34insGGCAAGCCTTGCCCCTCA	XP_005267160.1:n.1498+33_1498+34insGGCAAGCCTTGCCCCTCA
XM_005267104.3:c.922+33_922+34insGGCAAGCCTTGCCCCTCA	XP_005267161.1:n.922+33_922+34insGGCAAGCCTTGCCCCTCA
XM_005267105.3:c.922+33_922+34insGGCAAGCCTTGCCCCTCA	XP_005267162.1:n.922+33_922+34insGGCAAGCCTTGCCCCTCA
XM_006715552.1:c.1386-3573_1386-3572insGGCAAGCCTTGCCCCTCA	XP_006715615.1:n.1386-3573_1386-3572insGGCAAGCCTTGCCCCTCA
XM_011536074.1:c.922+33_922+34insGGCAAGCCTTGCCCCTCA	XP_011534376.1:n.922+33_922+34insGGCAAGCCTTGCCCCTCA
XM_005267102.5:c.1498+33_1498+34insGGCAAGCCTTGCCCCTCA	XP_005267159.1:n.1498+33_1498+34insGGCAAGCCTTGCCCCTCA
XM_005267103.2:c.1498+33_1498+34insGGCAAGCCTTGCCCCTCA	XP_005267160.1:n.1498+33_1498+34insGGCAAGCCTTGCCCCTCA
XM_005267104.5:c.922+33_922+34insGGCAAGCCTTGCCCCTCA	XP_005267161.1:n.922+33_922+34insGGCAAGCCTTGCCCCTCA
XM_005267105.5:c.922+33_922+34insGGCAAGCCTTGCCCCTCA	XP_005267162.1:n.922+33_922+34insGGCAAGCCTTGCCCCTCA
XM_006715552.2:c.1386-3573_1386-3572insGGCAAGCCTTGCCCCTCA	XP_006715615.1:n.1386-3573_1386-3572insGGCAAGCCTTGCCCCTCA
XM_011536074.3:c.922+33_922+34insGGCAAGCCTTGCCCCTCA	XP_011534376.1:n.922+33_922+34insGGCAAGCCTTGCCCCTCA
NM_003057.3:c.1498+33_1498+34insGGCAAGCCTTGCCCCTCA MANE Select	NP_003048.1:n.1498+33_1498+34insGGCAAGCCTTGCCCCTCA
NM_153187.2:c.1386-1032_1386-1031insGGCAAGCCTTGCCCCTCA	NP_694857.1:n.1386-1032_1386-1031insGGCAAGCCTTGCCCCTCA