Canonical Allele Identifier: CA2203673527

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027689_5027690delinsCA , CM000678.2:g.5027689_5027690delinsCA	GRCh38
NC_000016.9:g.5077690_5077691delinsCA , CM000678.1:g.5077690_5077691delinsCA	GRCh37
NC_000016.8:g.5017691_5017692delinsCA	NCBI36
NG_028152.1:g.11252_11253delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+156_1174+157delinsTG MANE Select	ENSP00000310998.3:n.1174+156_1174+157delinsTG
ENST00000649828.1:c.*346+156_*346+157delinsTG	ENSP00000498032.1:n.*346+156_*346+157delinsTG
ENST00000312251.7:c.1174+156_1174+157delinsTG	ENSP00000310998.3:n.1174+156_1174+157delinsTG
ENST00000381955.7:c.1174+156_1174+157delinsTG	ENSP00000371381.3:n.1174+156_1174+157delinsTG
ENST00000562746.5:c.*346+156_*346+157delinsTG	ENSP00000455900.1:n.*346+156_*346+157delinsTG
ENST00000563578.5:c.738+1190_738+1191delinsTG
ENST00000564397.5:n.2227+156_2227+157delinsTG
ENST00000565876.5:c.481-311_481-310delinsTG
ENST00000566137.5:n.472+156_472+157delinsTG
ENST00000567739.5:n.493+156_493+157delinsTG
ENST00000568202.5:n.1037+156_1037+157delinsTG
ENST00000569296.5:c.787+156_787+157delinsTG	ENSP00000465949.1:n.787+156_787+157delinsTG
NM_016256.3:c.1174+156_1174+157delinsTG	NP_057340.2:n.1174+156_1174+157delinsTG
XM_011522517.1:c.1174+156_1174+157delinsTG	XP_011520819.1:n.1174+156_1174+157delinsTG
XR_243285.1:n.1270+156_1270+157delinsTG
XM_011522517.3:c.1174+156_1174+157delinsTG	XP_011520819.1:n.1174+156_1174+157delinsTG
XR_001751908.2:n.1269+156_1269+157delinsTG
XR_001751909.2:n.1273+156_1273+157delinsTG
XR_001751910.2:n.1302+156_1302+157delinsTG
XR_001751911.2:n.1302+156_1302+157delinsTG
XR_001751912.2:n.1306+156_1306+157delinsTG
NM_016256.4:c.1174+156_1174+157delinsTG MANE Select	NP_057340.2:n.1174+156_1174+157delinsTG