Canonical Allele Identifier: CA2818110751

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367085_46367086insCACACCCAACACA , CM000683.2:g.46367085_46367086insCACACCCAACACA	GRCh38
NC_000021.8:g.47787000_47787001insCACACCCAACACA , CM000683.1:g.47787000_47787001insCACACCCAACACA	GRCh37
NC_000021.7:g.46611428_46611429insCACACCCAACACA	NCBI36
NG_008961.1:g.47965_47966insCACACCCAACACA
NG_008961.2:g.47964_47965insCACACCCAACACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000466474.6:c.*1607_*1608insCACACCCAACACA	ENSP00000511987.1:n.*1607_*1608insCACACCCAACACA
ENST00000695525.1:n.3197_3198insCACACCCAACACA
ENST00000695558.1:c.3111_3112insCACACCCAACACA	ENSP00000512015.1:p.Val1038HisfsTer24
ENST00000703224.1:c.*2354_*2355insCACACCCAACACA	ENSP00000515242.1:n.*2354_*2355insCACACCCAACACA
ENST00000359568.10:c.3111_3112insCACACCCAACACA MANE Select	ENSP00000352572.5:p.Val1038HisfsTer24
ENST00000359568.9:c.3111_3112insCACACCCAACACA	ENSP00000352572.5:p.Val1038HisfsTer24
ENST00000480896.5:n.3380_3381insCACACCCAACACA
NM_001315529.1:c.2757_2758insCACACCCAACACA	NP_001302458.1:p.Val920HisfsTer24
NM_006031.5:c.3111_3112insCACACCCAACACA	NP_006022.3:p.Val1038HisfsTer24
XM_005261124.3:c.3111_3112insCACACCCAACACA	XP_005261181.1:p.Val1038HisfsTer24
XM_011529593.1:c.3192_3193insCACACCCAACACA	XP_011527895.1:p.Val1065HisfsTer24
XM_011529594.1:c.3192_3193insCACACCCAACACA	XP_011527896.1:p.Val1065HisfsTer24
XM_005261124.5:c.3111_3112insCACACCCAACACA	XP_005261181.1:p.Val1038HisfsTer24
XM_011529594.3:c.3192_3193insCACACCCAACACA	XP_011527896.1:p.Val1065HisfsTer24
XM_017028362.2:c.3111_3112insCACACCCAACACA	XP_016883851.1:p.Val1038HisfsTer24
XM_017028363.1:c.2757_2758insCACACCCAACACA	XP_016883852.1:p.Val920HisfsTer24
XM_024452082.1:c.1995_1996insCACACCCAACACA	XP_024307850.1:p.Val666HisfsTer24
XM_024452083.1:c.891_892insCACACCCAACACA	XP_024307851.1:p.Val298HisfsTer24
NM_006031.6:c.3111_3112insCACACCCAACACA MANE Select	NP_006022.3:p.Val1038HisfsTer24
NM_001315529.2:c.2757_2758insCACACCCAACACA	NP_001302458.1:p.Val920HisfsTer24