Canonical Allele Identifier: CA1192901

Gene: PIGM KCNJ10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160030486_160030489del , CM000663.2:g.160030486_160030489del	GRCh38
NC_000001.10:g.160000276_160000279del , CM000663.1:g.160000276_160000279del	GRCh37
NC_000001.9:g.158266900_158266903del	NCBI36
NG_012238.1:g.6508_6511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368090.5:c.1254_1257del (PIGM) MANE Select	ENSP00000357069.2:p.Arg419SerfsTer?
ENST00000509700.2:c.671+11348_671+11351del (KCNJ10)
ENST00000637644.1:c.487+11560_487+11563del (KCNJ10)	ENSP00000490282.1:n.487+11560_487+11563del
ENST00000639408.1:c.587+10016_587+10019del (KCNJ10)	ENSP00000491635.1:n.587+10016_587+10019del
ENST00000640914.1:c.224+10016_224+10019del (KCNJ10)
ENST00000368090.3:c.1254_1257del (PIGM)	ENSP00000357069.2:p.Arg419SerfsTer?
NM_145167.2:c.1254_1257del (PIGM)	NP_660150.1:p.Arg419SerfsTer?
NM_145167.3:c.1254_1257del (PIGM) MANE Select	NP_660150.1:p.Arg419SerfsTer?