Canonical Allele Identifier: CA721281751

Gene: NAGPA

Linked Data

• dbSNP Id: rs1234662370
• MyVariant Identifiers: chr16:g.5078882_5078883insC (hg19) ; chr16:g.5028881_5028882insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028881_5028882insC , CM000678.2:g.5028881_5028882insC	GRCh38
NC_000016.9:g.5078882_5078883insC , CM000678.1:g.5078882_5078883insC	GRCh37
NC_000016.8:g.5018883_5018884insC	NCBI36
NG_028152.1:g.10060_10061insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.918_919insG MANE Select	ENSP00000310998.3:p.Cys307ValfsTer27
ENST00000649828.1:c.918_919insG	ENSP00000498032.1:p.Trp307ValfsTer29
ENST00000312251.7:c.918_919insG	ENSP00000310998.3:p.Cys307ValfsTer27
ENST00000381955.7:c.918_919insG	ENSP00000371381.3:p.Cys307ValfsTer27
ENST00000562346.2:c.505-697_505-696insG
ENST00000562746.5:c.918_919insG	ENSP00000455900.1:p.Trp307ValfsTer29
ENST00000563578.5:c.736_737insG
ENST00000564397.5:n.1277_1278insG
ENST00000565876.5:c.481-1503_481-1502insG
ENST00000567739.5:n.237_238insG
ENST00000568202.5:n.781_782insG
ENST00000569296.5:c.462_463insG	ENSP00000465949.1:p.Cys155ValfsTer18
NM_016256.3:c.918_919insG	NP_057340.2:p.Cys307ValfsTer27
XM_011522517.1:c.918_919insG	XP_011520819.1:p.Cys307ValfsTer27
XM_011522518.1:c.918_919insG	XP_011520820.1:p.Cys307ValfsTer18
XM_011522519.1:c.918_919insG	XP_011520821.1:p.Trp307ValfsTer29
XR_243285.1:n.945_946insG
XM_011522517.3:c.918_919insG	XP_011520819.1:p.Cys307ValfsTer27
XR_001751908.2:n.944_945insG
XR_001751909.2:n.944_945insG
XR_001751910.2:n.944_945insG
XR_001751911.2:n.944_945insG
XR_001751912.2:n.944_945insG
NM_016256.4:c.918_919insG MANE Select	NP_057340.2:p.Cys307ValfsTer27