Canonical Allele Identifier: CA245313659

Gene: SLC15A4

Linked Data

• dbSNP Id: rs999832392
• gnomAD v2: 12-129299583-TCTC-T
• gnomAD v4: 12-128815038-TCTC-T
• MyVariant Identifiers: chr12:g.129299584_129299586del (hg19) ; chr12:g.128815039_128815041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815041_128815043del , CM000674.2:g.128815041_128815043del	GRCh38
NC_000012.11:g.129299586_129299588del , CM000674.1:g.129299586_129299588del	GRCh37
NC_000012.10:g.127865539_127865541del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.576_578del MANE Select	ENSP00000266771.5:p.Arg193del
ENST00000266771.9:c.576_578del	ENSP00000266771.5:p.Arg193del
ENST00000366292.6:n.888_890del
ENST00000376740.8:c.155_157del
ENST00000376744.8:c.412_414del
ENST00000535272.1:n.370_372del
ENST00000539703.1:n.226_228del
NM_145648.3:c.576_578del	NP_663623.1:p.Arg193del
XM_011537895.1:c.726_728del	XP_011536197.1:p.Arg243del
XR_429081.2:n.599_601del
XR_944494.1:n.749_751del
XR_944495.1:n.749_751del
XR_944496.1:n.749_751del
XR_944497.1:n.749_751del
XM_017018791.1:c.726_728del	XP_016874280.1:p.Arg243del
XM_017018792.1:c.726_728del	XP_016874281.1:p.Arg243del
XM_017018793.1:c.576_578del	XP_016874282.1:p.Arg193del
XR_002957287.1:n.599_601del
XR_944496.2:n.749_751del
NM_145648.4:c.576_578del MANE Select	NP_663623.1:p.Arg193del