Canonical Allele Identifier: CA2203660389

Gene: NAGPA

Linked Data

• dbSNP Id: rs1956057215
• gnomAD v4: 16-5029076-TCCACAGTGCAGAGCATCACGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5029088_5029108del , CM000678.2:g.5029088_5029108del	GRCh38
NC_000016.9:g.5079089_5079109del , CM000678.1:g.5079089_5079109del	GRCh37
NC_000016.8:g.5019090_5019110del	NCBI36
NG_028152.1:g.9845_9865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.792-89_792-69del MANE Select	ENSP00000310998.3:n.792-89_792-69del
ENST00000649828.1:c.792-89_792-69del	ENSP00000498032.1:n.792-89_792-69del
ENST00000312251.7:c.792-89_792-69del	ENSP00000310998.3:n.792-89_792-69del
ENST00000381955.7:c.792-89_792-69del	ENSP00000371381.3:n.792-89_792-69del
ENST00000562037.1:c.553-89_553-69del	ENSP00000464994.1:n.553-89_553-69del
ENST00000562346.2:c.505-912_505-892del
ENST00000562746.5:c.792-89_792-69del	ENSP00000455900.1:n.792-89_792-69del
ENST00000563578.5:c.610-89_610-69del
ENST00000564397.5:n.1062_1082del
ENST00000565876.5:c.480+1288_480+1308del
ENST00000567739.5:n.22_42del
ENST00000568202.5:n.655-89_655-69del
ENST00000569296.5:c.336-89_336-69del	ENSP00000465949.1:n.336-89_336-69del
NM_016256.3:c.792-89_792-69del	NP_057340.2:n.792-89_792-69del
XM_011522517.1:c.792-89_792-69del	XP_011520819.1:n.792-89_792-69del
XM_011522518.1:c.792-89_792-69del	XP_011520820.1:n.792-89_792-69del
XM_011522519.1:c.792-89_792-69del	XP_011520821.1:n.792-89_792-69del
XR_243285.1:n.819-89_819-69del
XM_011522517.3:c.792-89_792-69del	XP_011520819.1:n.792-89_792-69del
XR_001751908.2:n.818-89_818-69del
XR_001751909.2:n.818-89_818-69del
XR_001751910.2:n.818-89_818-69del
XR_001751911.2:n.818-89_818-69del
XR_001751912.2:n.818-89_818-69del
NM_016256.4:c.792-89_792-69del MANE Select	NP_057340.2:n.792-89_792-69del