Canonical Allele Identifier: CA2614173642

Gene: SLC22A12

Linked Data

• gnomAD v4: 11-64598565-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598569del , CM000673.2:g.64598569del	GRCh38
NC_000011.9:g.64366041del , CM000673.1:g.64366041del	GRCh37
NC_000011.8:g.64122617del	NCBI36
NG_008110.1:g.12760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.884del MANE Select	ENSP00000366797.1:p.Gly295AlafsTer21
ENST00000336464.7:c.782del	ENSP00000336836.7:p.Gly261AlafsTer21
ENST00000377567.6:c.560del	ENSP00000366790.2:p.Gly187AlafsTer21
ENST00000377572.5:c.560del	ENSP00000366795.1:p.Gly187AlafsTer21
ENST00000377574.5:c.884del	ENSP00000366797.1:p.Gly295AlafsTer21
ENST00000473690.5:c.221del	ENSP00000438437.1:p.Gly74AlafsTer21
NM_001276326.1:c.782del	NP_001263255.1:p.Gly261AlafsTer21
NM_001276327.1:c.560del	NP_001263256.1:p.Gly187AlafsTer21
NM_144585.3:c.884del	NP_653186.2:p.Gly295AlafsTer21
NM_153378.2:c.221del	NP_700357.1:p.Gly74AlafsTer21
XM_006718430.2:c.959del	XP_006718493.1:p.Gly320AlafsTer21
XM_006718431.2:c.854del	XP_006718494.1:p.Gly285AlafsTer21
XM_006718430.4:c.959del	XP_006718493.1:p.Gly320AlafsTer21
XM_006718431.4:c.854del	XP_006718494.1:p.Gly285AlafsTer21
NM_144585.4:c.884del MANE Select	NP_653186.2:p.Gly295AlafsTer21
NM_001276326.2:c.782del	NP_001263255.1:p.Gly261AlafsTer21
NM_153378.3:c.221del	NP_700357.1:p.Gly74AlafsTer21
NM_001276327.2:c.560del	NP_001263256.1:p.Gly187AlafsTer21