Canonical Allele Identifier: CA1917275623

Gene: PBLD

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68309404_68309407delinsTTCA , CM000672.2:g.68309404_68309407delinsTTCA	GRCh38
NC_000010.10:g.70069161_70069164delinsTTCA , CM000672.1:g.70069161_70069164delinsTTCA	GRCh37
NC_000010.9:g.69739167_69739170delinsTTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358769.7:c.-59-2504_-59-2501delinsTGAA MANE Select	ENSP00000351619.2:n.-59-2504_-59-2501delinsTGAA
ENST00000309049.8:c.-62-2501_-62-2498delinsTGAA	ENSP00000308466.4:n.-62-2501_-62-2498delinsTGAA
ENST00000358769.6:c.-59-2504_-59-2501delinsTGAA	ENSP00000351619.2:n.-59-2504_-59-2501delinsTGAA
ENST00000495025.2:c.-62-2501_-62-2498delinsTGAA	ENSP00000476306.1:n.-62-2501_-62-2498delinsTGAA
NM_001033083.1:c.-59-2504_-59-2501delinsTGAA	NP_001028255.1:n.-59-2504_-59-2501delinsTGAA
NM_022129.3:c.-59-2504_-59-2501delinsTGAA	NP_071412.2:n.-59-2504_-59-2501delinsTGAA
XM_005270028.2:c.-62-2501_-62-2498delinsTGAA	XP_005270085.1:n.-62-2501_-62-2498delinsTGAA
XM_005270029.3:c.-62-2501_-62-2498delinsTGAA	XP_005270086.1:n.-62-2501_-62-2498delinsTGAA
XM_011540059.1:c.-62-2501_-62-2498delinsTGAA	XP_011538361.1:n.-62-2501_-62-2498delinsTGAA
XM_011540060.1:c.-62-2501_-62-2498delinsTGAA	XP_011538362.1:n.-62-2501_-62-2498delinsTGAA
XM_005270028.4:c.-62-2501_-62-2498delinsTGAA	XP_005270085.1:n.-62-2501_-62-2498delinsTGAA
XM_011540060.3:c.-62-2501_-62-2498delinsTGAA	XP_011538362.1:n.-62-2501_-62-2498delinsTGAA
XM_017016513.1:c.-59-2504_-59-2501delinsTGAA	XP_016872002.1:n.-59-2504_-59-2501delinsTGAA
XM_017016514.1:c.-62-2501_-62-2498delinsTGAA	XP_016872003.1:n.-62-2501_-62-2498delinsTGAA
NM_022129.4:c.-59-2504_-59-2501delinsTGAA MANE Select	NP_071412.2:n.-59-2504_-59-2501delinsTGAA
NM_001033083.2:c.-59-2504_-59-2501delinsTGAA	NP_001028255.1:n.-59-2504_-59-2501delinsTGAA