Canonical Allele Identifier: CA2659130699

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55643069-GCACCACTGTATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643071_55643082del , CM000664.2:g.55643071_55643082del	GRCh38
NC_000002.11:g.55870206_55870217del , CM000664.1:g.55870206_55870217del	GRCh37
NC_000002.10:g.55723710_55723721del	NCBI36
NG_033012.1:g.55830_55841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2069+77_2069+88del MANE Select	ENSP00000400646.2:n.2069+77_2069+88del
ENST00000260604.8:c.*1611+77_*1611+88del	ENSP00000260604.4:n.*1611+77_*1611+88del
ENST00000415374.5:c.2069+77_2069+88del	ENSP00000393953.1:n.2069+77_2069+88del
ENST00000447944.6:c.2069+77_2069+88del	ENSP00000400646.2:n.2069+77_2069+88del
ENST00000481066.1:n.1131+77_1131+88del
NM_033109.4:c.2069+77_2069+88del	NP_149100.2:n.2069+77_2069+88del
XM_005264629.1:c.1829+77_1829+88del	XP_005264686.1:n.1829+77_1829+88del
XM_005264629.2:c.1829+77_1829+88del	XP_005264686.1:n.1829+77_1829+88del
XM_017005172.1:c.1829+77_1829+88del	XP_016860661.1:n.1829+77_1829+88del
NM_033109.5:c.2069+77_2069+88del MANE Select	NP_149100.2:n.2069+77_2069+88del