Canonical Allele Identifier: CA10344889

Gene: GPR143 TBL1X

Linked Data

• ClinVar Variation Id: 1940375
• ClinVar RCV Id: RCV002658360
• dbSNP Id: rs749933516
• ExAC: X:9707514 CAG / C
• gnomAD v2: X-9707514-CAG-C
• gnomAD v4: X-9739474-CAG-C
• MyVariant Identifiers: chrX:g.9707515_9707516del (hg19) ; chrX:g.9739475_9739476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.9739475_9739476del , CM000685.2:g.9739475_9739476del	GRCh38
NC_000023.10:g.9707515_9707516del , CM000685.1:g.9707515_9707516del	GRCh37
NC_000023.9:g.9667515_9667516del	NCBI36
NG_009074.1:g.31402_31403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467482.6:c.1120+9_1120+10del (GPR143) MANE Select	ENSP00000417161.1:n.1120+9_1120+10del
ENST00000647060.1:c.1555-1307_1555-1306del (TBL1X)	ENSP00000495467.1:n.1555-1307_1555-1306del
ENST00000467482.5:c.1120+9_1120+10del (GPR143)	ENSP00000417161.1:n.1120+9_1120+10del
ENST00000487206.1:n.235+9_235+10del (GPR143)
NM_000273.2:c.1120+9_1120+10del (GPR143)	NP_000264.2:n.1120+9_1120+10del
XM_005274541.2:c.1120+9_1120+10del (GPR143)	XP_005274598.1:n.1120+9_1120+10del
XR_950507.1:n.35+756_35+757del
XM_005274541.3:c.1120+9_1120+10del (GPR143)	XP_005274598.1:n.1120+9_1120+10del
XM_024452387.1:c.868+9_868+10del (GPR143)	XP_024308155.1:n.868+9_868+10del
XM_024452388.1:c.868+9_868+10del (GPR143)	XP_024308156.1:n.868+9_868+10del
NM_000273.3:c.1120+9_1120+10del (GPR143) MANE Select	NP_000264.2:n.1120+9_1120+10del