Canonical Allele Identifier: CA2114131447

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs2088309233
• gnomAD v4: 13-100530277-ACGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530282_100530284del , CM000675.2:g.100530282_100530284del	GRCh38
NC_000013.10:g.101182536_101182538del , CM000675.1:g.101182536_101182538del	GRCh37
NC_000013.9:g.99980537_99980539del	NCBI36
NG_008768.1:g.446200_446202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1850_*1852del (GGACT) MANE Select	ENSP00000508020.1:n.*1850_*1852del
ENST00000376285.6:c.*116_*118del (PCCA) MANE Select	ENSP00000365462.1:n.*116_*118del
ENST00000636366.1:c.1501_1503del (PCCA)
ENST00000636475.1:c.1818_1820del (PCCA)
ENST00000637657.1:c.1963_1965del (PCCA)
ENST00000647303.1:c.*1787_*1789del (PCCA)	ENSP00000495663.1:n.*1787_*1789del
ENST00000376250.6:c.*1850_*1852del (GGACT)	ENSP00000365426.1:n.*1850_*1852del
ENST00000376279.7:c.*116_*118del (PCCA)	ENSP00000365456.3:n.*116_*118del
ENST00000376285.5:c.*116_*118del (PCCA)	ENSP00000365462.1:n.*116_*118del
ENST00000376286.8:c.*116_*118del (PCCA)	ENSP00000365463.4:n.*116_*118del
ENST00000428969.1:c.452_454del (PCCA)	ENSP00000399413.1:n.452_454del
ENST00000455100.2:c.*1850_*1852del (GGACT)	ENSP00000410449.1:n.*1850_*1852del
ENST00000458283.5:c.519_521del (PCCA)
NM_000282.3:c.*116_*118del (PCCA)	NP_000273.2:n.*116_*118del
NM_001127692.2:c.*116_*118del (PCCA)	NP_001121164.1:n.*116_*118del
NM_001178004.1:c.*116_*118del (PCCA)	NP_001171475.1:n.*116_*118del
NM_001195087.1:c.*1850_*1852del (GGACT)	NP_001182016.1:n.*1850_*1852del
NM_033110.2:c.*1850_*1852del (GGACT)	NP_149101.1:n.*1850_*1852del
XR_931615.1:n.2160_2162del (PCCA)
NM_001352605.1:c.*116_*118del (PCCA)	NP_001339534.1:n.*116_*118del
NM_001352606.1:c.*116_*118del (PCCA)	NP_001339535.1:n.*116_*118del
NM_001352607.1:c.*116_*118del (PCCA)	NP_001339536.1:n.*116_*118del
NM_001352608.1:c.*116_*118del (PCCA)	NP_001339537.1:n.*116_*118del
NM_001352610.1:c.*116_*118del (PCCA)	NP_001339539.1:n.*116_*118del
NM_001352611.1:c.*116_*118del (PCCA)	NP_001339540.1:n.*116_*118del
NM_001352612.1:c.*116_*118del (PCCA)	NP_001339541.1:n.*116_*118del
NR_148027.1:n.2352_2354del (PCCA)
NR_148028.1:n.2390_2392del (PCCA)
NR_148029.1:n.2312_2314del (PCCA)
NR_148030.1:n.2493_2495del (PCCA)
NR_148031.1:n.2306_2308del (PCCA)
XM_005254083.2:c.*1850_*1852del (GGACT)	XP_005254140.1:n.*1850_*1852del
XM_011521129.3:c.*1850_*1852del (GGACT)	XP_011519431.1:n.*1850_*1852del
XM_017020609.1:c.*116_*118del (PCCA)	XP_016876098.1:n.*116_*118del
XM_017020613.1:c.*231_*233del (PCCA)	XP_016876102.1:n.*231_*233del
XR_001749567.1:n.2483_2485del (PCCA)
XR_001749568.1:n.2570_2572del (PCCA)
XR_001749569.1:n.2429_2431del (PCCA)
XR_001749576.1:n.2040_2042del (PCCA)
XR_001749577.1:n.1937_1939del (PCCA)
NM_000282.4:c.*116_*118del (PCCA) MANE Select	NP_000273.2:n.*116_*118del
NM_001352605.2:c.*116_*118del (PCCA)	NP_001339534.1:n.*116_*118del
NM_001352606.2:c.*116_*118del (PCCA)	NP_001339535.1:n.*116_*118del
NM_001352607.2:c.*116_*118del (PCCA)	NP_001339536.1:n.*116_*118del
NM_001352608.2:c.*116_*118del (PCCA)	NP_001339537.1:n.*116_*118del
NM_001352610.2:c.*116_*118del (PCCA)	NP_001339539.1:n.*116_*118del
NM_001352611.2:c.*116_*118del (PCCA)	NP_001339540.1:n.*116_*118del
NM_001352612.2:c.*116_*118del (PCCA)	NP_001339541.1:n.*116_*118del
NR_148027.2:n.2274_2276del (PCCA)
NR_148028.2:n.2312_2314del (PCCA)
NR_148029.2:n.2234_2236del (PCCA)
NR_148030.2:n.2415_2417del (PCCA)
NR_148031.2:n.2228_2230del (PCCA)
NM_001127692.3:c.*116_*118del (PCCA)	NP_001121164.1:n.*116_*118del
NM_001178004.2:c.*116_*118del (PCCA)	NP_001171475.1:n.*116_*118del
NM_001195087.2:c.*1850_*1852del (GGACT) MANE Select	NP_001182016.1:n.*1850_*1852del
NM_033110.3:c.*1850_*1852del (GGACT)	NP_149101.1:n.*1850_*1852del