Canonical Allele Identifier: CA2693662688

Gene: PQBP1

Linked Data

• gnomAD v4: X-48902600-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902601del , CM000685.2:g.48902601del	GRCh38
NC_000023.10:g.48759878del , CM000685.1:g.48759878del	GRCh37
NC_000023.9:g.48644822del	NCBI36
NG_015967.1:g.9684del
NG_015968.2:g.549del
NG_034300.1:g.14358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.577+84del	ENSP00000218224.4:n.577+84del
ENST00000376563.6:c.577+84del	ENSP00000365747.1:n.577+84del
ENST00000396763.6:c.577+84del	ENSP00000379985.1:n.577+84del
ENST00000443648.6:c.577+84del	ENSP00000414861.2:n.577+84del
ENST00000456306.2:c.-32-131del	ENSP00000393013.2:n.-32-131del
ENST00000472742.6:c.445-131del	ENSP00000509191.1:n.445-131del
ENST00000473764.6:n.1276del
ENST00000474671.6:n.1470del
ENST00000477997.6:n.1396del
ENST00000486150.6:n.1570del
ENST00000692023.1:c.*868del	ENSP00000509927.1:n.*868del
ENST00000447146.7:c.577+84del MANE Select	ENSP00000391759.2:n.577+84del
ENST00000651767.1:c.577+84del	ENSP00000498362.1:n.577+84del
ENST00000218224.8:c.577+84del	ENSP00000218224.4:n.577+84del
ENST00000247140.8:c.293-131del	ENSP00000247140.4:n.293-131del
ENST00000376563.5:c.577+84del	ENSP00000365747.1:n.577+84del
ENST00000376566.8:c.293-131del	ENSP00000365750.4:n.293-131del
ENST00000396763.5:c.577+84del	ENSP00000379985.1:n.577+84del
ENST00000443648.5:c.577+84del	ENSP00000414861.1:n.577+84del
ENST00000447146.6:c.577+84del	ENSP00000391759.2:n.577+84del
ENST00000456306.1:c.259-131del
ENST00000463529.4:n.661del
ENST00000465859.2:n.591+84del
ENST00000470059.5:n.661del
ENST00000470062.5:n.550-131del
ENST00000472742.5:n.614-131del
ENST00000473764.5:n.1149+84del
ENST00000474671.5:n.637+84del
ENST00000477997.5:n.658+84del
NM_001032381.1:c.577+84del	NP_001027553.1:n.577+84del
NM_001032382.1:c.577+84del	NP_001027554.1:n.577+84del
NM_001032383.1:c.577+84del	NP_001027555.1:n.577+84del
NM_001032384.1:c.577+84del	NP_001027556.1:n.577+84del
NM_001167989.1:c.577+84del	NP_001161461.1:n.577+84del
NM_001167990.1:c.553+84del	NP_001161462.1:n.553+84del
NM_001167992.1:c.277+84del	NP_001161464.1:n.277+84del
NM_005710.2:c.577+84del	NP_005701.1:n.577+84del
NM_144495.2:c.293-131del	NP_652766.1:n.293-131del
XM_005272571.3:c.577+84del	XP_005272628.1:n.577+84del
XM_005272572.3:c.293-131del	XP_005272629.1:n.293-131del
XM_011543884.1:c.577+84del	XP_011542186.1:n.577+84del
XM_005272572.4:c.293-131del	XP_005272629.1:n.293-131del
XM_011543884.2:c.577+84del	XP_011542186.1:n.577+84del
XM_017029207.1:c.577+84del	XP_016884696.1:n.577+84del
NM_001032381.2:c.577+84del	NP_001027553.1:n.577+84del
NM_001032382.2:c.577+84del MANE Select	NP_001027554.1:n.577+84del
NM_001032383.2:c.577+84del	NP_001027555.1:n.577+84del
NM_001167989.2:c.577+84del	NP_001161461.1:n.577+84del
NM_001167990.2:c.553+84del	NP_001161462.1:n.553+84del
NM_144495.3:c.293-131del	NP_652766.1:n.293-131del