Canonical Allele Identifier: CA2203660080

Gene: NAGPA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028892_5028893delinsGG , CM000678.2:g.5028892_5028893delinsGG	GRCh38
NC_000016.9:g.5078893_5078894delinsGG , CM000678.1:g.5078893_5078894delinsGG	GRCh37
NC_000016.8:g.5018894_5018895delinsGG	NCBI36
NG_028152.1:g.10049_10050delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.907_908delinsCC MANE Select	ENSP00000310998.3:p.Pro303=
ENST00000649828.1:c.907_908delinsCC	ENSP00000498032.1:p.Pro303=
ENST00000312251.7:c.907_908delinsCC	ENSP00000310998.3:p.Pro303=
ENST00000381955.7:c.907_908delinsCC	ENSP00000371381.3:p.Pro303=
ENST00000562346.2:c.505-708_505-707delinsCC
ENST00000562746.5:c.907_908delinsCC	ENSP00000455900.1:p.Pro303=
ENST00000563578.5:c.725_726delinsCC
ENST00000564397.5:n.1266_1267delinsCC
ENST00000565876.5:c.480+1492_480+1493delinsCC
ENST00000567739.5:n.226_227delinsCC
ENST00000568202.5:n.770_771delinsCC
ENST00000569296.5:c.451_452delinsCC	ENSP00000465949.1:p.Pro151=
NM_016256.3:c.907_908delinsCC	NP_057340.2:p.Pro303=
XM_011522517.1:c.907_908delinsCC	XP_011520819.1:p.Pro303=
XM_011522518.1:c.907_908delinsCC	XP_011520820.1:p.Pro303=
XM_011522519.1:c.907_908delinsCC	XP_011520821.1:p.Pro303=
XR_243285.1:n.934_935delinsCC
XM_011522517.3:c.907_908delinsCC	XP_011520819.1:p.Pro303=
XR_001751908.2:n.933_934delinsCC
XR_001751909.2:n.933_934delinsCC
XR_001751910.2:n.933_934delinsCC
XR_001751911.2:n.933_934delinsCC
XR_001751912.2:n.933_934delinsCC
NM_016256.4:c.907_908delinsCC MANE Select	NP_057340.2:p.Pro303=