Canonical Allele Identifier: CA632673158

Gene: SLC7A9

Linked Data

• dbSNP Id: rs1400046667
• gnomAD v2: 19-33352880-CA-C
• gnomAD v3: 19-32861974-CA-C
• gnomAD v4: 19-32861974-CA-C
• MyVariant Identifiers: chr19:g.33352881del (hg19) ; chr19:g.32861975del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32861975del , CM000681.2:g.32861975del	GRCh38
NC_000019.9:g.33352881del , CM000681.1:g.33352881del	GRCh37
NC_000019.8:g.38044721del	NCBI36
NG_008258.1:g.12803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000023064.9:c.704+143del MANE Select	ENSP00000023064.3:n.704+143del
ENST00000023064.8:c.704+143del	ENSP00000023064.3:n.704+143del
ENST00000587772.1:c.704+143del	ENSP00000468439.1:n.704+143del
ENST00000589659.1:n.649+143del
ENST00000590341.5:c.704+143del	ENSP00000464822.1:n.704+143del
ENST00000590465.5:c.*211-1325del	ENSP00000468076.1:n.*211-1325del
ENST00000592232.5:c.*211-1325del	ENSP00000465563.1:n.*211-1325del
NM_001126335.1:c.704+143del	NP_001119807.1:n.704+143del
NM_001243036.1:c.704+143del	NP_001229965.1:n.704+143del
NM_014270.4:c.704+143del	NP_055085.1:n.704+143del
XM_006722992.1:c.24-1325del	XP_006723055.1:n.24-1325del
XM_011526402.1:c.704+143del	XP_011524704.1:n.704+143del
XM_011526402.3:c.704+143del	XP_011524704.1:n.704+143del
XM_017026230.1:c.440+143del	XP_016881719.1:n.440+143del
XM_024451334.1:c.-564-1325del	XP_024307102.1:n.-564-1325del
NM_014270.5:c.704+143del MANE Select	NP_055085.1:n.704+143del
NM_001126335.2:c.704+143del	NP_001119807.1:n.704+143del
NM_001243036.2:c.704+143del	NP_001229965.1:n.704+143del