Canonical Allele Identifier: CA3434010

Gene: SLC23A1

Linked Data

• dbSNP Id: rs771882611
• ExAC: 5:138715321 AGGT / A
• gnomAD v4: 5-139379632-AGGT-A
• MyVariant Identifiers: chr5:g.138715322_138715324del (hg19) ; chr5:g.139379633_139379635del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379636_139379638del , CM000667.2:g.139379636_139379638del	GRCh38
NC_000005.9:g.138715325_138715327del , CM000667.1:g.138715325_138715327del	GRCh37
NC_000005.8:g.138743224_138743226del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.925+43_925+45del MANE Select	ENSP00000302701.4:n.925+43_925+45del
ENST00000348729.7:c.925+43_925+45del	ENSP00000302701.4:n.925+43_925+45del
ENST00000353963.7:c.937+43_937+45del	ENSP00000302851.5:n.937+43_937+45del
ENST00000504513.1:c.165-281_165-279del
ENST00000506512.1:n.536+43_536+45del
NM_005847.4:c.925+43_925+45del	NP_005838.3:n.925+43_925+45del
NM_152685.3:c.937+43_937+45del	NP_689898.2:n.937+43_937+45del
XM_005272148.3:c.1045+43_1045+45del	XP_005272205.3:n.1045+43_1045+45del
XM_005272149.3:c.1033+43_1033+45del	XP_005272206.3:n.1033+43_1033+45del
XM_006714741.2:c.1045+43_1045+45del	XP_006714804.2:n.1045+43_1045+45del
XM_011543765.1:c.1045+43_1045+45del	XP_011542067.1:n.1045+43_1045+45del
XM_011543766.1:c.826+43_826+45del	XP_011542068.1:n.826+43_826+45del
XM_011543767.1:c.730+43_730+45del	XP_011542069.1:n.730+43_730+45del
XM_011543768.1:c.610+43_610+45del	XP_011542070.1:n.610+43_610+45del
XM_011543769.1:c.220+43_220+45del	XP_011542071.1:n.220+43_220+45del
XM_005272149.4:c.1033+43_1033+45del	XP_005272206.3:n.1033+43_1033+45del
XM_011543765.2:c.1045+43_1045+45del	XP_011542067.1:n.1045+43_1045+45del
NM_005847.5:c.925+43_925+45del MANE Select	NP_005838.3:n.925+43_925+45del
NM_152685.4:c.937+43_937+45del	NP_689898.2:n.937+43_937+45del