Canonical Allele Identifier: CA1586303522

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379632_139379635delinsAGGT , CM000667.2:g.139379632_139379635delinsAGGT	GRCh38
NC_000005.9:g.138715321_138715324delinsAGGT , CM000667.1:g.138715321_138715324delinsAGGT	GRCh37
NC_000005.8:g.138743220_138743223delinsAGGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.925+43_925+46delinsACCT MANE Select	ENSP00000302701.4:n.925+43_925+46delinsACCT
ENST00000348729.7:c.925+43_925+46delinsACCT	ENSP00000302701.4:n.925+43_925+46delinsACCT
ENST00000353963.7:c.937+43_937+46delinsACCT	ENSP00000302851.5:n.937+43_937+46delinsACCT
ENST00000504513.1:c.165-281_165-278delinsACCT
ENST00000506512.1:n.536+43_536+46delinsACCT
NM_005847.4:c.925+43_925+46delinsACCT	NP_005838.3:n.925+43_925+46delinsACCT
NM_152685.3:c.937+43_937+46delinsACCT	NP_689898.2:n.937+43_937+46delinsACCT
XM_005272148.3:c.1045+43_1045+46delinsACCT	XP_005272205.3:n.1045+43_1045+46delinsACCT
XM_005272149.3:c.1033+43_1033+46delinsACCT	XP_005272206.3:n.1033+43_1033+46delinsACCT
XM_006714741.2:c.1045+43_1045+46delinsACCT	XP_006714804.2:n.1045+43_1045+46delinsACCT
XM_011543765.1:c.1045+43_1045+46delinsACCT	XP_011542067.1:n.1045+43_1045+46delinsACCT
XM_011543766.1:c.826+43_826+46delinsACCT	XP_011542068.1:n.826+43_826+46delinsACCT
XM_011543767.1:c.730+43_730+46delinsACCT	XP_011542069.1:n.730+43_730+46delinsACCT
XM_011543768.1:c.610+43_610+46delinsACCT	XP_011542070.1:n.610+43_610+46delinsACCT
XM_011543769.1:c.220+43_220+46delinsACCT	XP_011542071.1:n.220+43_220+46delinsACCT
XM_005272149.4:c.1033+43_1033+46delinsACCT	XP_005272206.3:n.1033+43_1033+46delinsACCT
XM_011543765.2:c.1045+43_1045+46delinsACCT	XP_011542067.1:n.1045+43_1045+46delinsACCT
NM_005847.5:c.925+43_925+46delinsACCT MANE Select	NP_005838.3:n.925+43_925+46delinsACCT
NM_152685.4:c.937+43_937+46delinsACCT	NP_689898.2:n.937+43_937+46delinsACCT