Canonical Allele Identifier: CA2688038531

Gene: POP1

Linked Data

• gnomAD v4: 8-98148678-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98148679del , CM000670.2:g.98148679del	GRCh38
NC_000008.10:g.99160907del , CM000670.1:g.99160907del	GRCh37
NC_000008.9:g.99230083del	NCBI36
NG_052869.1:g.36387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.1711-136del MANE Select	ENSP00000385787.2:n.1711-136del
ENST00000349693.3:c.1711-136del	ENSP00000339529.3:n.1711-136del
ENST00000401707.6:c.1711-136del	ENSP00000385787.2:n.1711-136del
NM_001145860.1:c.1711-136del	NP_001139332.1:n.1711-136del
NM_001145861.1:c.1711-136del	NP_001139333.1:n.1711-136del
NM_015029.2:c.1711-136del	NP_055844.2:n.1711-136del
XM_011516800.1:c.1711-136del	XP_011515102.1:n.1711-136del
NM_001145860.2:c.1711-136del MANE Select	NP_001139332.1:n.1711-136del
NM_001145861.2:c.1711-136del	NP_001139333.1:n.1711-136del
NM_015029.3:c.1711-136del	NP_055844.2:n.1711-136del