Canonical Allele Identifier: CA7888661

Gene: NAGPA

Linked Data

• dbSNP Id: rs780754206
• ExAC: 16:5078888 C / CG
• gnomAD v2: 16-5078888-C-CG
• gnomAD v3: 16-5028887-C-CG
• gnomAD v4: 16-5028887-C-CG
• MyVariant Identifiers: chr16:g.5078888_5078889insG (hg19) ; chr16:g.5028887_5028888insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028887_5028888insG , CM000678.2:g.5028887_5028888insG	GRCh38
NC_000016.9:g.5078888_5078889insG , CM000678.1:g.5078888_5078889insG	GRCh37
NC_000016.8:g.5018889_5018890insG	NCBI36
NG_028152.1:g.10054_10055insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.912_913insC MANE Select	ENSP00000310998.3:p.Asp305ArgfsTer29
ENST00000649828.1:c.912_913insC	ENSP00000498032.1:p.Asp305ArgfsTer?
ENST00000312251.7:c.912_913insC	ENSP00000310998.3:p.Asp305ArgfsTer29
ENST00000381955.7:c.912_913insC	ENSP00000371381.3:p.Asp305ArgfsTer29
ENST00000562346.2:c.505-703_505-702insC
ENST00000562746.5:c.912_913insC	ENSP00000455900.1:p.Asp305ArgfsTer?
ENST00000563578.5:c.730_731insC
ENST00000564397.5:n.1271_1272insC
ENST00000565876.5:c.480+1497_480+1498insC
ENST00000567739.5:n.231_232insC
ENST00000568202.5:n.775_776insC
ENST00000569296.5:c.456_457insC	ENSP00000465949.1:p.Asp153ArgfsTer20
NM_016256.3:c.912_913insC	NP_057340.2:p.Asp305ArgfsTer29
XM_011522517.1:c.912_913insC	XP_011520819.1:p.Asp305ArgfsTer29
XM_011522518.1:c.912_913insC	XP_011520820.1:p.Asp305ArgfsTer20
XM_011522519.1:c.912_913insC	XP_011520821.1:p.Asp305ArgfsTer?
XR_243285.1:n.939_940insC
XM_011522517.3:c.912_913insC	XP_011520819.1:p.Asp305ArgfsTer29
XR_001751908.2:n.938_939insC
XR_001751909.2:n.938_939insC
XR_001751910.2:n.938_939insC
XR_001751911.2:n.938_939insC
XR_001751912.2:n.938_939insC
NM_016256.4:c.912_913insC MANE Select	NP_057340.2:p.Asp305ArgfsTer29