Canonical Allele Identifier: CA2203660053

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028873_5028875delinsTGC , CM000678.2:g.5028873_5028875delinsTGC	GRCh38
NC_000016.9:g.5078874_5078876delinsTGC , CM000678.1:g.5078874_5078876delinsTGC	GRCh37
NC_000016.8:g.5018875_5018877delinsTGC	NCBI36
NG_028152.1:g.10067_10069delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.920+5_920+7delinsGCA MANE Select	ENSP00000310998.3:n.920+5_920+7delinsGCA
ENST00000649828.1:c.920+5_920+7delinsGCA	ENSP00000498032.1:n.920+5_920+7delinsGCA
ENST00000312251.7:c.920+5_920+7delinsGCA	ENSP00000310998.3:n.920+5_920+7delinsGCA
ENST00000381955.7:c.920+5_920+7delinsGCA	ENSP00000371381.3:n.920+5_920+7delinsGCA
ENST00000562346.2:c.505-690_505-688delinsGCA
ENST00000562746.5:c.920+5_920+7delinsGCA	ENSP00000455900.1:n.920+5_920+7delinsGCA
ENST00000563578.5:c.738+5_738+7delinsGCA
ENST00000564397.5:n.1284_1286delinsGCA
ENST00000565876.5:c.481-1496_481-1494delinsGCA
ENST00000567739.5:n.239+5_239+7delinsGCA
ENST00000568202.5:n.783+5_783+7delinsGCA
ENST00000569296.5:c.464+5_464+7delinsGCA	ENSP00000465949.1:n.464+5_464+7delinsGCA
NM_016256.3:c.920+5_920+7delinsGCA	NP_057340.2:n.920+5_920+7delinsGCA
XM_011522517.1:c.920+5_920+7delinsGCA	XP_011520819.1:n.920+5_920+7delinsGCA
XM_011522518.1:c.920+5_920+7delinsGCA	XP_011520820.1:n.920+5_920+7delinsGCA
XM_011522519.1:c.920+5_920+7delinsGCA	XP_011520821.1:n.920+5_920+7delinsGCA
XR_243285.1:n.947+5_947+7delinsGCA
XM_011522517.3:c.920+5_920+7delinsGCA	XP_011520819.1:n.920+5_920+7delinsGCA
XR_001751908.2:n.946+5_946+7delinsGCA
XR_001751909.2:n.946+5_946+7delinsGCA
XR_001751910.2:n.946+5_946+7delinsGCA
XR_001751911.2:n.946+5_946+7delinsGCA
XR_001751912.2:n.946+5_946+7delinsGCA
NM_016256.4:c.920+5_920+7delinsGCA MANE Select	NP_057340.2:n.920+5_920+7delinsGCA