Canonical Allele Identifier: CA2675524431

Gene: SLC23A1

Linked Data

• gnomAD v4: 5-139379678-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379682del , CM000667.2:g.139379682del	GRCh38
NC_000005.9:g.138715371del , CM000667.1:g.138715371del	GRCh37
NC_000005.8:g.138743270del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.924del MANE Select	ENSP00000302701.4:p.Cys309ValfsTer8
ENST00000348729.7:c.924del	ENSP00000302701.4:p.Cys309ValfsTer8
ENST00000353963.7:c.936del	ENSP00000302851.5:p.Cys313ValfsTer8
ENST00000504513.1:c.164+277del
ENST00000506512.1:n.535del
NM_005847.4:c.924del	NP_005838.3:p.Cys309ValfsTer8
NM_152685.3:c.936del	NP_689898.2:p.Cys313ValfsTer8
XM_005272148.3:c.1044del	XP_005272205.3:p.Cys349ValfsTer8
XM_005272149.3:c.1032del	XP_005272206.3:p.Cys345ValfsTer8
XM_006714741.2:c.1044del	XP_006714804.2:p.Cys349ValfsTer8
XM_011543765.1:c.1044del	XP_011542067.1:p.Cys349ValfsTer8
XM_011543766.1:c.825del	XP_011542068.1:p.Cys276ValfsTer8
XM_011543767.1:c.729del	XP_011542069.1:p.Cys244ValfsTer8
XM_011543768.1:c.609del	XP_011542070.1:p.Cys204ValfsTer8
XM_011543769.1:c.219del	XP_011542071.1:p.Cys74ValfsTer8
XM_005272149.4:c.1032del	XP_005272206.3:p.Cys345ValfsTer8
XM_011543765.2:c.1044del	XP_011542067.1:p.Cys349ValfsTer8
NM_005847.5:c.924del MANE Select	NP_005838.3:p.Cys309ValfsTer8
NM_152685.4:c.936del	NP_689898.2:p.Cys313ValfsTer8