Canonical Allele Identifier: CA6875145

Gene: SLC15A4

Linked Data

• dbSNP Id: rs767266484
• ExAC: 12:129299405 CA / C
• gnomAD v2: 12-129299405-CA-C
• MyVariant Identifiers: chr12:g.129299406del (hg19) ; chr12:g.128814861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814861del , CM000674.2:g.128814861del	GRCh38
NC_000012.11:g.129299406del , CM000674.1:g.129299406del	GRCh37
NC_000012.10:g.127865359del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.756del MANE Select	ENSP00000266771.5:p.Asp253MetfsTer12
ENST00000266771.9:c.756del	ENSP00000266771.5:p.Asp253MetfsTer12
ENST00000366292.6:n.1068del
ENST00000376740.8:c.335del
ENST00000376744.8:c.592del
ENST00000539703.1:n.406del
ENST00000614634.1:c.-87del	ENSP00000483143.1:n.-87del
NM_145648.3:c.756del	NP_663623.1:p.Asp253MetfsTer12
XM_011537895.1:c.906del	XP_011536197.1:p.Asp303MetfsTer12
XR_429081.2:n.779del
XR_944494.1:n.929del
XR_944495.1:n.929del
XR_944496.1:n.929del
XR_944497.1:n.929del
XM_017018791.1:c.906del	XP_016874280.1:p.Asp303MetfsTer12
XM_017018792.1:c.906del	XP_016874281.1:p.Asp303MetfsTer12
XM_017018793.1:c.756del	XP_016874282.1:p.Asp253MetfsTer12
XR_002957287.1:n.779del
XR_944496.2:n.929del
NM_145648.4:c.756del MANE Select	NP_663623.1:p.Asp253MetfsTer12