Canonical Allele Identifier: CA705220640

Gene: FAM177A1 PPP2R3C

Linked Data

• dbSNP Id: rs1346602446
• gnomAD v3: 14-35089998-CAG-C
• gnomAD v4: 14-35089998-CAG-C
• MyVariant Identifiers: chr14:g.35559205_35559206del (hg19) ; chr14:g.35089999_35090000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35090000_35090001del , CM000676.2:g.35090000_35090001del	GRCh38
NC_000014.8:g.35559206_35559207del , CM000676.1:g.35559206_35559207del	GRCh37
NC_000014.7:g.34628957_34628958del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000699514.1:c.*405-2094_*405-2093del (FAM177A1)	ENSP00000514409.1:n.*405-2094_*405-2093de...
ENST00000699515.1:c.*332-2094_*332-2093del (FAM177A1)	ENSP00000514410.1:n.*332-2094_*332-2093de...
ENST00000261475.10:c.1113+1070_1113+1071del (PPP2R3C) MANE Select	ENSP00000261475.5:n.1113+1070_1113+1071de...
ENST00000261475.9:c.1113+1070_1113+1071del (PPP2R3C)	ENSP00000261475.5:n.1113+1070_1113+1071de...
ENST00000553273.5:c.*779+1070_*779+1071del (PPP2R3C)	ENSP00000451075.1:n.*779+1070_*779+1071de...
ENST00000554222.5:c.*916+1070_*916+1071del (PPP2R3C)	ENSP00000451416.1:n.*916+1070_*916+1071de...
ENST00000555219.1:c.139-1990_139-1989del (PPP2R3C)	ENSP00000452173.1:n.139-1990_139-1989del
ENST00000555260.1:c.479+8441_479+8442del (FAM177A1)
ENST00000557074.1:c.110+1070_110+1071del (PPP2R3C)
ENST00000557217.5:c.*916+1070_*916+1071del (PPP2R3C)	ENSP00000452436.1:n.*916+1070_*916+1071de...
NM_001305155.1:c.783+1070_783+1071del (PPP2R3C)	NP_001292084.1:n.783+1070_783+1071del
NM_001305156.1:c.783+1070_783+1071del (PPP2R3C)	NP_001292085.1:n.783+1070_783+1071del
NM_017917.2:c.1113+1070_1113+1071del (PPP2R3C)	NP_060387.2:n.1113+1070_1113+1071del
NM_017917.3:c.1113+1070_1113+1071del (PPP2R3C)	NP_060387.2:n.1113+1070_1113+1071del
NR_110415.1:n.479+8441_479+8442del
NR_130972.1:n.1312+1070_1312+1071del (PPP2R3C)
XM_005267782.2:c.1113+1070_1113+1071del (PPP2R3C)	XP_005267839.1:n.1113+1070_1113+1071del
XM_011536885.1:c.957+1070_957+1071del (PPP2R3C)	XP_011535187.1:n.957+1070_957+1071del
XM_005267782.4:c.1113+1070_1113+1071del (PPP2R3C)	XP_005267839.1:n.1113+1070_1113+1071del
XM_017021388.2:c.976-1990_976-1989del (PPP2R3C)	XP_016876877.1:n.976-1990_976-1989del
XM_024449638.1:c.1020+1070_1020+1071del (PPP2R3C)	XP_024305406.1:n.1020+1070_1020+1071del
XM_024449639.1:c.957+1070_957+1071del (PPP2R3C)	XP_024305407.1:n.957+1070_957+1071del
XR_002957558.1:n.1439+1070_1439+1071del (PPP2R3C)
NM_001305155.2:c.783+1070_783+1071del (PPP2R3C)	NP_001292084.1:n.783+1070_783+1071del
NM_001305156.2:c.783+1070_783+1071del (PPP2R3C)	NP_001292085.1:n.783+1070_783+1071del
NM_017917.4:c.1113+1070_1113+1071del (PPP2R3C) MANE Select	NP_060387.2:n.1113+1070_1113+1071del
NR_130972.2:n.1067+1070_1067+1071del (PPP2R3C)