Canonical Allele Identifier: CA2580084564

Gene: PC

Linked Data

• ClinVar Variation Id: 1726352
• ClinVar RCV Id: RCV002307323

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66850031_66850032del , CM000673.2:g.66850031_66850032del	GRCh38
NC_000011.9:g.66617502_66617503del , CM000673.1:g.66617502_66617503del	GRCh37
NC_000011.8:g.66374078_66374079del	NCBI36
NG_008319.1:g.113346_113347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393958.7:c.2804_2805del	ENSP00000377530.2:p.Ala935GlyfsTer?
ENST00000393960.7:c.2804_2805del MANE Select	ENSP00000377532.1:p.Ala935GlyfsTer?
ENST00000525476.2:n.324_325del
ENST00000528224.2:c.*813_*814del	ENSP00000498317.1:n.*813_*814del
ENST00000529047.6:c.2804_2805del	ENSP00000435905.2:p.Ala935GlyfsTer?
ENST00000651036.1:c.2804_2805del	ENSP00000498406.1:p.Ala935GlyfsTer?
ENST00000651469.1:c.*1280_*1281del	ENSP00000498712.1:n.*1280_*1281del
ENST00000651854.1:c.2804_2805del	ENSP00000498994.1:p.Ala935GlyfsTer?
ENST00000652125.1:c.2804_2805del	ENSP00000498302.1:p.Ala935GlyfsTer?
ENST00000393955.6:c.2804_2805del	ENSP00000377527.2:p.Ala935GlyfsTer?
ENST00000393958.6:c.2804_2805del	ENSP00000377530.2:p.Ala935GlyfsTer?
ENST00000393960.5:c.2804_2805del	ENSP00000377532.1:p.Ala935GlyfsTer?
ENST00000529047.5:c.164_165del	ENSP00000435905.1:p.Ala55GlyfsTer?
NM_000920.3:c.2804_2805del	NP_000911.2:p.Ala935GlyfsTer?
NM_001040716.1:c.2804_2805del	NP_001035806.1:p.Ala935GlyfsTer?
NM_022172.2:c.2804_2805del	NP_071504.2:p.Ala935GlyfsTer?
XM_005274031.3:c.2804_2805del	XP_005274088.1:p.Ala935GlyfsTer?
XM_005274032.3:c.2804_2805del	XP_005274089.1:p.Ala935GlyfsTer?
XM_006718577.2:c.2804_2805del	XP_006718640.1:p.Ala935GlyfsTer?
XM_006718578.2:c.2804_2805del	XP_006718641.1:p.Ala935GlyfsTer?
XM_006718579.2:c.1283_1284del	XP_006718642.1:p.Ala428GlyfsTer?
XM_011545085.1:c.2804_2805del	XP_011543387.1:p.Ala935GlyfsTer?
XM_011545086.1:c.2804_2805del	XP_011543388.1:p.Ala935GlyfsTer?
XM_011545087.1:c.1508_1509del	XP_011543389.1:p.Ala503GlyfsTer?
XM_011545088.1:c.1439_1440del	XP_011543390.1:p.Ala480GlyfsTer?
XM_005274031.4:c.2804_2805del	XP_005274088.1:p.Ala935GlyfsTer?
XM_005274032.4:c.2804_2805del	XP_005274089.1:p.Ala935GlyfsTer?
XM_006718578.3:c.2804_2805del	XP_006718641.1:p.Ala935GlyfsTer?
XM_006718579.3:c.1283_1284del	XP_006718642.1:p.Ala428GlyfsTer?
XM_011545086.2:c.2804_2805del	XP_011543388.1:p.Ala935GlyfsTer?
XM_011545087.2:c.1508_1509del	XP_011543389.1:p.Ala503GlyfsTer?
XM_017017868.1:c.2804_2805del	XP_016873357.1:p.Ala935GlyfsTer?
XM_017017869.1:c.2804_2805del	XP_016873358.1:p.Ala935GlyfsTer?
XM_017017870.1:c.2804_2805del	XP_016873359.1:p.Ala935GlyfsTer?
XM_017017871.1:c.2804_2805del	XP_016873360.1:p.Ala935GlyfsTer?
XM_017017872.2:c.2804_2805del	XP_016873361.1:p.Ala935GlyfsTer?
NM_000920.4:c.2804_2805del	NP_000911.2:p.Ala935GlyfsTer?
NM_001040716.2:c.2804_2805del MANE Select	NP_001035806.1:p.Ala935GlyfsTer?
NM_022172.3:c.2804_2805del	NP_071504.2:p.Ala935GlyfsTer?