Canonical Allele Identifier: CA4087776

Gene: PLG

Linked Data

• dbSNP Id: rs753306661
• ExAC: 6:161152244 TAG / T
• gnomAD v2: 6-161152244-TAG-T
• gnomAD v4: 6-160731212-TAG-T
• MyVariant Identifiers: chr6:g.161152245_161152246del (hg19) ; chr6:g.160731213_160731214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160731216_160731217del , CM000668.2:g.160731216_160731217del	GRCh38
NC_000006.11:g.161152248_161152249del , CM000668.1:g.161152248_161152249del	GRCh37
NC_000006.10:g.161072238_161072239del	NCBI36
NG_016200.1:g.34024_34025del , LRG_571:g.34024_34025del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297289.9:c.375_376del	ENSP00000516619.1:p.Glu125AspfsTer?
ENST00000418964.2:c.1473_1474del	ENSP00000389424.2:p.Glu491AspfsTer?
ENST00000706906.1:c.1422_1423del	ENSP00000516618.1:p.Glu474AspfsTer?
ENST00000308192.14:c.1422_1423del MANE Select	ENSP00000308938.9:p.Glu474AspfsTer?
ENST00000297289.8:n.420_421del
ENST00000308192.13:c.1422_1423del	ENSP00000308938.9:p.Glu474AspfsTer?
ENST00000493435.1:n.477_478del
NM_000301.3:c.1422_1423del , LRG_571t1:c.1422_1423del	NP_000292.1:p.Glu474AspfsTer?
NM_000301.4:c.1422_1423del	NP_000292.1:p.Glu474AspfsTer?
NM_000301.5:c.1422_1423del MANE Select	NP_000292.1:p.Glu474AspfsTer?