Canonical Allele Identifier: CA7888692

Gene: NAGPA

Linked Data

• dbSNP Id: rs747674079
• ExAC: 16:5078986 TCCG / T
• gnomAD v2: 16-5078986-TCCG-T
• gnomAD v4: 16-5028985-TCCG-T
• MyVariant Identifiers: chr16:g.5078987_5078989del (hg19) ; chr16:g.5028986_5028988del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028988_5028990del , CM000678.2:g.5028988_5028990del	GRCh38
NC_000016.9:g.5078989_5078991del , CM000678.1:g.5078989_5078991del	GRCh37
NC_000016.8:g.5018990_5018992del	NCBI36
NG_028152.1:g.9954_9956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.812_814del MANE Select	ENSP00000310998.3:p.Ala271del
ENST00000649828.1:c.812_814del	ENSP00000498032.1:p.Ala271del
ENST00000312251.7:c.812_814del	ENSP00000310998.3:p.Ala271del
ENST00000381955.7:c.812_814del	ENSP00000371381.3:p.Ala271del
ENST00000562037.1:c.573_575del	ENSP00000464994.1:n.573_575del
ENST00000562346.2:c.505-803_505-801del
ENST00000562746.5:c.812_814del	ENSP00000455900.1:p.Ala271del
ENST00000563578.5:c.630_632del
ENST00000564397.5:n.1171_1173del
ENST00000565876.5:c.480+1397_480+1399del
ENST00000567739.5:n.131_133del
ENST00000568202.5:n.675_677del
ENST00000569296.5:c.356_358del	ENSP00000465949.1:p.Ala119del
NM_016256.3:c.812_814del	NP_057340.2:p.Ala271del
XM_011522517.1:c.812_814del	XP_011520819.1:p.Ala271del
XM_011522518.1:c.812_814del	XP_011520820.1:p.Ala271del
XM_011522519.1:c.812_814del	XP_011520821.1:p.Ala271del
XR_243285.1:n.839_841del
XM_011522517.3:c.812_814del	XP_011520819.1:p.Ala271del
XR_001751908.2:n.838_840del
XR_001751909.2:n.838_840del
XR_001751910.2:n.838_840del
XR_001751911.2:n.838_840del
XR_001751912.2:n.838_840del
NM_016256.4:c.812_814del MANE Select	NP_057340.2:p.Ala271del