Canonical Allele Identifier: CA1206117369

Gene: SLC19A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169485696_169485703delinsCGAGCGGT , CM000663.2:g.169485696_169485703delinsCGAGCGGT	GRCh38
NC_000001.10:g.169454934_169454941delinsCGAGCGGT , CM000663.1:g.169454934_169454941delinsCGAGCGGT	GRCh37
NC_000001.9:g.167721558_167721565delinsCGAGCGGT	NCBI36
NG_008255.1:g.5268_5275delinsACCGCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236137.10:c.64_71delinsACCGCTCG MANE Select	ENSP00000236137.5:p.Thr22=
ENST00000646596.1:c.64_71delinsACCGCTCG	ENSP00000494404.1:p.Thr22=
ENST00000236137.9:c.64_71delinsACCGCTCG	ENSP00000236137.5:p.Thr22=
ENST00000367804.4:c.64_71delinsACCGCTCG	ENSP00000356778.3:p.Thr22=
NM_006996.2:c.64_71delinsACCGCTCG	NP_008927.1:p.Thr22=
XM_011509076.1:c.12+350_12+357delinsACCGCTCG	XP_011507378.1:n.12+350_12+357delinsACCGCTCG
XM_011509077.1:c.64_71delinsACCGCTCG	XP_011507379.1:p.Thr22=
NM_001319667.1:c.64_71delinsACCGCTCG	NP_001306596.1:p.Thr22=
NM_006996.3:c.64_71delinsACCGCTCG MANE Select	NP_008927.1:p.Thr22=