Canonical Allele Identifier: CA917592882

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1581372853

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379826_139379829del , CM000667.2:g.139379826_139379829del	GRCh38
NC_000005.9:g.138715515_138715518del , CM000667.1:g.138715515_138715518del	GRCh37
NC_000005.8:g.138743414_138743417del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.776_779del MANE Select	ENSP00000302701.4:p.Leu259ProfsTer3
ENST00000348729.7:c.776_779del	ENSP00000302701.4:p.Leu259ProfsTer3
ENST00000353963.7:c.788_791del	ENSP00000302851.5:p.Leu263ProfsTer3
ENST00000504513.1:c.164+129_164+132del
ENST00000506512.1:n.387_390del
NM_005847.4:c.776_779del	NP_005838.3:p.Leu259ProfsTer3
NM_152685.3:c.788_791del	NP_689898.2:p.Leu263ProfsTer3
XM_005272148.3:c.896_899del	XP_005272205.3:p.Leu299ProfsTer3
XM_005272149.3:c.884_887del	XP_005272206.3:p.Leu295ProfsTer3
XM_006714741.2:c.896_899del	XP_006714804.2:p.Leu299ProfsTer3
XM_011543765.1:c.896_899del	XP_011542067.1:p.Leu299ProfsTer3
XM_011543766.1:c.677_680del	XP_011542068.1:p.Leu226ProfsTer3
XM_011543767.1:c.581_584del	XP_011542069.1:p.Leu194ProfsTer3
XM_011543768.1:c.461_464del	XP_011542070.1:p.Leu154ProfsTer3
XM_011543769.1:c.71_74del	XP_011542071.1:p.Leu24ProfsTer3
XM_005272149.4:c.884_887del	XP_005272206.3:p.Leu295ProfsTer3
XM_011543765.2:c.896_899del	XP_011542067.1:p.Leu299ProfsTer3
NM_005847.5:c.776_779del MANE Select	NP_005838.3:p.Leu259ProfsTer3
NM_152685.4:c.788_791del	NP_689898.2:p.Leu263ProfsTer3