Canonical Allele Identifier: CA563498512

Gene: SLC23A1

Linked Data

• gnomAD v2: 5-138715531-A-AG
• gnomAD v4: 5-139379842-A-AG
• MyVariant Identifiers: chr5:g.138715532_138715533insG (hg19) ; chr5:g.139379843_139379844insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379848dup , CM000667.2:g.139379848dup	GRCh38
NC_000005.9:g.138715537dup , CM000667.1:g.138715537dup	GRCh37
NC_000005.8:g.138743436dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.769-9dup MANE Select	ENSP00000302701.4:n.769-9dup
ENST00000348729.7:c.769-9dup	ENSP00000302701.4:n.769-9dup
ENST00000353963.7:c.781-9dup	ENSP00000302851.5:n.781-9dup
ENST00000504513.1:c.164+113dup
ENST00000506512.1:n.371dup
NM_005847.4:c.769-9dup	NP_005838.3:n.769-9dup
NM_152685.3:c.781-9dup	NP_689898.2:n.781-9dup
XM_005272148.3:c.889-9dup	XP_005272205.3:n.889-9dup
XM_005272149.3:c.877-9dup	XP_005272206.3:n.877-9dup
XM_006714741.2:c.889-9dup	XP_006714804.2:n.889-9dup
XM_011543765.1:c.889-9dup	XP_011542067.1:n.889-9dup
XM_011543766.1:c.670-9dup	XP_011542068.1:n.670-9dup
XM_011543767.1:c.574-9dup	XP_011542069.1:n.574-9dup
XM_011543768.1:c.454-9dup	XP_011542070.1:n.454-9dup
XM_011543769.1:c.64-9dup	XP_011542071.1:n.64-9dup
XM_005272149.4:c.877-9dup	XP_005272206.3:n.877-9dup
XM_011543765.2:c.889-9dup	XP_011542067.1:n.889-9dup
NM_005847.5:c.769-9dup MANE Select	NP_005838.3:n.769-9dup
NM_152685.4:c.781-9dup	NP_689898.2:n.781-9dup