Canonical Allele Identifier: CA2655020868

Gene: PCNT

Linked Data

• gnomAD v4: 21-46367054-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367056_46367057del , CM000683.2:g.46367056_46367057del	GRCh38
NC_000021.8:g.47786971_47786972del , CM000683.1:g.47786971_47786972del	GRCh37
NC_000021.7:g.46611399_46611400del	NCBI36
NG_008961.1:g.47936_47937del
NG_008961.2:g.47935_47936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1578_*1579del	ENSP00000511987.1:n.*1578_*1579del
ENST00000695525.1:n.3168_3169del
ENST00000695558.1:c.3082_3083del	ENSP00000512015.1:p.Gln1028ValfsTer29
ENST00000703224.1:c.*2325_*2326del	ENSP00000515242.1:n.*2325_*2326del
ENST00000359568.10:c.3082_3083del MANE Select	ENSP00000352572.5:p.Gln1028ValfsTer29
ENST00000359568.9:c.3082_3083del	ENSP00000352572.5:p.Gln1028ValfsTer29
ENST00000480896.5:n.3351_3352del
NM_001315529.1:c.2728_2729del	NP_001302458.1:p.Gln910ValfsTer29
NM_006031.5:c.3082_3083del	NP_006022.3:p.Gln1028ValfsTer29
XM_005261124.3:c.3082_3083del	XP_005261181.1:p.Gln1028ValfsTer29
XM_011529593.1:c.3163_3164del	XP_011527895.1:p.Gln1055ValfsTer29
XM_011529594.1:c.3163_3164del	XP_011527896.1:p.Gln1055ValfsTer29
XM_005261124.5:c.3082_3083del	XP_005261181.1:p.Gln1028ValfsTer29
XM_011529594.3:c.3163_3164del	XP_011527896.1:p.Gln1055ValfsTer29
XM_017028362.2:c.3082_3083del	XP_016883851.1:p.Gln1028ValfsTer29
XM_017028363.1:c.2728_2729del	XP_016883852.1:p.Gln910ValfsTer29
XM_024452082.1:c.1966_1967del	XP_024307850.1:p.Gln656ValfsTer29
XM_024452083.1:c.862_863del	XP_024307851.1:p.Gln288ValfsTer29
NM_006031.6:c.3082_3083del MANE Select	NP_006022.3:p.Gln1028ValfsTer29
NM_001315529.2:c.2728_2729del	NP_001302458.1:p.Gln910ValfsTer29