Canonical Allele Identifier: CA2659130745

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55643180-T-TCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643180_55643181insCCA , CM000664.2:g.55643180_55643181insCCA	GRCh38
NC_000002.11:g.55870315_55870316insCCA , CM000664.1:g.55870315_55870316insCCA	GRCh37
NC_000002.10:g.55723819_55723820insCCA	NCBI36
NG_033012.1:g.55730_55731insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2046_2047insTGG MANE Select	ENSP00000400646.2:p.Tyr682_Thr683insTrp
ENST00000260604.8:c.*1588_*1589insTGG	ENSP00000260604.4:n.*1588_*1589insTGG
ENST00000415374.5:c.2046_2047insTGG	ENSP00000393953.1:p.Tyr682_Thr683insTrp
ENST00000447944.6:c.2046_2047insTGG	ENSP00000400646.2:p.Tyr682_Thr683insTrp
ENST00000481066.1:n.1108_1109insTGG
NM_033109.4:c.2046_2047insTGG	NP_149100.2:p.Tyr682_Thr683insTrp
XM_005264629.1:c.1806_1807insTGG	XP_005264686.1:p.Tyr602_Thr603insTrp
XM_005264629.2:c.1806_1807insTGG	XP_005264686.1:p.Tyr602_Thr603insTrp
XM_017005172.1:c.1806_1807insTGG	XP_016860661.1:p.Tyr602_Thr603insTrp
NM_033109.5:c.2046_2047insTGG MANE Select	NP_149100.2:p.Tyr682_Thr683insTrp