Canonical Allele Identifier: CA4912730

Gene: NAPRT

Linked Data

• ExAC: 8:144657674 GCTGGCCCCCCACGGCCACCAGCTGCAGGAAGAGGGCGTTGAGCTGGCTGGTCCTTATCCCCCACCCAGCACCATCCCTCAGACCTGCCCCCAC / G
• MyVariant Identifiers: chr8:g.144657675_144657767del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575509_143575601del , CM000670.2:g.143575509_143575601del	GRCh38
NC_000008.10:g.144657679_144657771del , CM000670.1:g.144657679_144657771del	GRCh37
NC_000008.9:g.144728822_144728914del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1188+25_1209del
ENST00000340490.7:c.1188+25_1209del
ENST00000426292.7:c.1188+25_1209del
ENST00000435154.7:c.1188+25_1209del
ENST00000449291.6:c.1188+25_1209del
ENST00000460623.5:c.166+25_187del
ENST00000464332.5:n.732+25_753del
ENST00000525583.5:c.972+25_993del
NM_001286829.1:c.1188+25_1209del
NM_145201.5:c.1188+25_1209del
XM_011517377.1:c.1188+25_1209del
NM_001363145.1:c.1108-72_1128del
NM_001363146.1:c.504+25_525del
XM_017013975.2:c.1407+25_1428del
XM_017013976.2:c.1407+25_1428del
XM_017013977.2:c.1108-72_1128del
XM_017013978.2:c.1407+25_1428del
XM_017013979.2:c.504+25_525del
XM_024447332.1:c.826-72_846del
XM_024447333.1:c.424-72_444del
NM_145201.6:c.1188+25_1209del
NM_001286829.2:c.1188+25_1209del