Canonical Allele Identifier: CA2614173640

Gene: SLC22A12

Linked Data

• gnomAD v4: 11-64598542-TCCTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598545_64598549del , CM000673.2:g.64598545_64598549del	GRCh38
NC_000011.9:g.64366017_64366021del , CM000673.1:g.64366017_64366021del	GRCh37
NC_000011.8:g.64122593_64122597del	NCBI36
NG_008110.1:g.12736_12740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.860_864del MANE Select	ENSP00000366797.1:p.Leu287HisfsTer30
ENST00000336464.7:c.758_762del	ENSP00000336836.7:p.Leu253HisfsTer30
ENST00000377567.6:c.536_540del	ENSP00000366790.2:p.Leu179HisfsTer30
ENST00000377572.5:c.536_540del	ENSP00000366795.1:p.Leu179HisfsTer30
ENST00000377574.5:c.860_864del	ENSP00000366797.1:p.Leu287HisfsTer30
ENST00000473690.5:c.197_201del	ENSP00000438437.1:p.Leu66HisfsTer30
NM_001276326.1:c.758_762del	NP_001263255.1:p.Leu253HisfsTer30
NM_001276327.1:c.536_540del	NP_001263256.1:p.Leu179HisfsTer30
NM_144585.3:c.860_864del	NP_653186.2:p.Leu287HisfsTer30
NM_153378.2:c.197_201del	NP_700357.1:p.Leu66HisfsTer30
XM_006718430.2:c.935_939del	XP_006718493.1:p.Leu312HisfsTer30
XM_006718431.2:c.830_834del	XP_006718494.1:p.Leu277HisfsTer30
XM_006718430.4:c.935_939del	XP_006718493.1:p.Leu312HisfsTer30
XM_006718431.4:c.830_834del	XP_006718494.1:p.Leu277HisfsTer30
NM_144585.4:c.860_864del MANE Select	NP_653186.2:p.Leu287HisfsTer30
NM_001276326.2:c.758_762del	NP_001263255.1:p.Leu253HisfsTer30
NM_153378.3:c.197_201del	NP_700357.1:p.Leu66HisfsTer30
NM_001276327.2:c.536_540del	NP_001263256.1:p.Leu179HisfsTer30