Canonical Allele Identifier: CA1805111175

Gene: POP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98148527_98148529delinsGAA , CM000670.2:g.98148527_98148529delinsGAA	GRCh38
NC_000008.10:g.99160755_99160757delinsGAA , CM000670.1:g.99160755_99160757delinsGAA	GRCh37
NC_000008.9:g.99229931_99229933delinsGAA	NCBI36
NG_052869.1:g.36235_36237delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401707.7:c.1711-288_1711-286delinsGAA MANE Select	ENSP00000385787.2:n.1711-288_1711-286delinsGAA
ENST00000349693.3:c.1711-288_1711-286delinsGAA	ENSP00000339529.3:n.1711-288_1711-286delinsGAA
ENST00000401707.6:c.1711-288_1711-286delinsGAA	ENSP00000385787.2:n.1711-288_1711-286delinsGAA
NM_001145860.1:c.1711-288_1711-286delinsGAA	NP_001139332.1:n.1711-288_1711-286delinsGAA
NM_001145861.1:c.1711-288_1711-286delinsGAA	NP_001139333.1:n.1711-288_1711-286delinsGAA
NM_015029.2:c.1711-288_1711-286delinsGAA	NP_055844.2:n.1711-288_1711-286delinsGAA
XM_011516800.1:c.1711-288_1711-286delinsGAA	XP_011515102.1:n.1711-288_1711-286delinsGAA
NM_001145860.2:c.1711-288_1711-286delinsGAA MANE Select	NP_001139332.1:n.1711-288_1711-286delinsGAA
NM_001145861.2:c.1711-288_1711-286delinsGAA	NP_001139333.1:n.1711-288_1711-286delinsGAA
NM_015029.3:c.1711-288_1711-286delinsGAA	NP_055844.2:n.1711-288_1711-286delinsGAA