Canonical Allele Identifier: CA620523749

Gene: NAGPA

Linked Data

• dbSNP Id: rs1567139883
• gnomAD v2: 16-5079008-TGCTGCG-T
• gnomAD v4: 16-5029007-TGCTGCG-T
• MyVariant Identifiers: chr16:g.5079011_5079026delinsACAAAGCGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5029010_5029015del , CM000678.2:g.5029010_5029015del	GRCh38
NC_000016.9:g.5079011_5079016del , CM000678.1:g.5079011_5079016del	GRCh37
NC_000016.8:g.5019012_5019017del	NCBI36
NG_028152.1:g.9929_9934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.792-5_792del
ENST00000649828.1:c.792-5_792del
ENST00000312251.7:c.792-5_792del
ENST00000381955.7:c.792-5_792del
ENST00000562037.1:c.553-5_553del
ENST00000562346.2:c.505-828_505-823del
ENST00000562746.5:c.792-5_792del
ENST00000563578.5:c.610-5_610del
ENST00000564397.5:n.1146_1151del
ENST00000565876.5:c.480+1372_480+1377del
ENST00000567739.5:n.106_111del
ENST00000568202.5:n.655-5_655del
ENST00000569296.5:c.336-5_336del
NM_016256.3:c.792-5_792del
XM_011522517.1:c.792-5_792del
XM_011522518.1:c.792-5_792del
XM_011522519.1:c.792-5_792del
XR_243285.1:n.819-5_819del
XM_011522517.3:c.792-5_792del
XR_001751908.2:n.818-5_818del
XR_001751909.2:n.818-5_818del
XR_001751910.2:n.818-5_818del
XR_001751911.2:n.818-5_818del
XR_001751912.2:n.818-5_818del
NM_016256.4:c.792-5_792del