Canonical Allele Identifier: CA2599375881

Gene: GGACT PCCA

Linked Data

• gnomAD v3: 13-100530271-ACGTTT-A
• gnomAD v4: 13-100530271-ACGTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530272_100530276del , CM000675.2:g.100530272_100530276del	GRCh38
NC_000013.10:g.101182526_101182530del , CM000675.1:g.101182526_101182530del	GRCh37
NC_000013.9:g.99980527_99980531del	NCBI36
NG_008768.1:g.446190_446194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1854_*1858del (GGACT) MANE Select	ENSP00000508020.1:n.*1854_*1858del
ENST00000376285.6:c.*106_*110del (PCCA) MANE Select	ENSP00000365462.1:n.*106_*110del
ENST00000636366.1:c.1491_1495del (PCCA)
ENST00000636475.1:c.1808_1812del (PCCA)
ENST00000637657.1:c.1953_1957del (PCCA)
ENST00000647303.1:c.*1777_*1781del (PCCA)	ENSP00000495663.1:n.*1777_*1781del
ENST00000376250.6:c.*1854_*1858del (GGACT)	ENSP00000365426.1:n.*1854_*1858del
ENST00000376279.7:c.*106_*110del (PCCA)	ENSP00000365456.3:n.*106_*110del
ENST00000376285.5:c.*106_*110del (PCCA)	ENSP00000365462.1:n.*106_*110del
ENST00000376286.8:c.*106_*110del (PCCA)	ENSP00000365463.4:n.*106_*110del
ENST00000428969.1:c.442_446del (PCCA)	ENSP00000399413.1:n.442_446del
ENST00000455100.2:c.*1854_*1858del (GGACT)	ENSP00000410449.1:n.*1854_*1858del
ENST00000458283.5:c.509_513del (PCCA)
NM_000282.3:c.*106_*110del (PCCA)	NP_000273.2:n.*106_*110del
NM_001127692.2:c.*106_*110del (PCCA)	NP_001121164.1:n.*106_*110del
NM_001178004.1:c.*106_*110del (PCCA)	NP_001171475.1:n.*106_*110del
NM_001195087.1:c.*1854_*1858del (GGACT)	NP_001182016.1:n.*1854_*1858del
NM_033110.2:c.*1854_*1858del (GGACT)	NP_149101.1:n.*1854_*1858del
XR_931615.1:n.2150_2154del (PCCA)
NM_001352605.1:c.*106_*110del (PCCA)	NP_001339534.1:n.*106_*110del
NM_001352606.1:c.*106_*110del (PCCA)	NP_001339535.1:n.*106_*110del
NM_001352607.1:c.*106_*110del (PCCA)	NP_001339536.1:n.*106_*110del
NM_001352608.1:c.*106_*110del (PCCA)	NP_001339537.1:n.*106_*110del
NM_001352610.1:c.*106_*110del (PCCA)	NP_001339539.1:n.*106_*110del
NM_001352611.1:c.*106_*110del (PCCA)	NP_001339540.1:n.*106_*110del
NM_001352612.1:c.*106_*110del (PCCA)	NP_001339541.1:n.*106_*110del
NR_148027.1:n.2342_2346del (PCCA)
NR_148028.1:n.2380_2384del (PCCA)
NR_148029.1:n.2302_2306del (PCCA)
NR_148030.1:n.2483_2487del (PCCA)
NR_148031.1:n.2296_2300del (PCCA)
XM_005254083.2:c.*1854_*1858del (GGACT)	XP_005254140.1:n.*1854_*1858del
XM_011521129.3:c.*1854_*1858del (GGACT)	XP_011519431.1:n.*1854_*1858del
XM_017020609.1:c.*106_*110del (PCCA)	XP_016876098.1:n.*106_*110del
XM_017020613.1:c.*221_*225del (PCCA)	XP_016876102.1:n.*221_*225del
XR_001749567.1:n.2473_2477del (PCCA)
XR_001749568.1:n.2560_2564del (PCCA)
XR_001749569.1:n.2419_2423del (PCCA)
XR_001749576.1:n.2030_2034del (PCCA)
XR_001749577.1:n.1927_1931del (PCCA)
NM_000282.4:c.*106_*110del (PCCA) MANE Select	NP_000273.2:n.*106_*110del
NM_001352605.2:c.*106_*110del (PCCA)	NP_001339534.1:n.*106_*110del
NM_001352606.2:c.*106_*110del (PCCA)	NP_001339535.1:n.*106_*110del
NM_001352607.2:c.*106_*110del (PCCA)	NP_001339536.1:n.*106_*110del
NM_001352608.2:c.*106_*110del (PCCA)	NP_001339537.1:n.*106_*110del
NM_001352610.2:c.*106_*110del (PCCA)	NP_001339539.1:n.*106_*110del
NM_001352611.2:c.*106_*110del (PCCA)	NP_001339540.1:n.*106_*110del
NM_001352612.2:c.*106_*110del (PCCA)	NP_001339541.1:n.*106_*110del
NR_148027.2:n.2264_2268del (PCCA)
NR_148028.2:n.2302_2306del (PCCA)
NR_148029.2:n.2224_2228del (PCCA)
NR_148030.2:n.2405_2409del (PCCA)
NR_148031.2:n.2218_2222del (PCCA)
NM_001127692.3:c.*106_*110del (PCCA)	NP_001121164.1:n.*106_*110del
NM_001178004.2:c.*106_*110del (PCCA)	NP_001171475.1:n.*106_*110del
NM_001195087.2:c.*1854_*1858del (GGACT) MANE Select	NP_001182016.1:n.*1854_*1858del
NM_033110.3:c.*1854_*1858del (GGACT)	NP_149101.1:n.*1854_*1858del