Canonical Allele Identifier: CA10633773

Gene: GGACT PCCA

Linked Data

• ClinVar Variation Id: 310852
• ClinVar RCV Id: RCV000266681 ; RCV001562126
• dbSNP Id: rs200007489
• gnomAD v2: 13-101182476-TTCAC-T
• gnomAD v3: 13-100530222-TTCAC-T
• gnomAD v4: 13-100530222-TTCAC-T
• MyVariant Identifiers: chr13:g.101182477_101182480del (hg19) ; chr13:g.100530223_100530226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530223_100530226del , CM000675.2:g.100530223_100530226del	GRCh38
NC_000013.10:g.101182477_101182480del , CM000675.1:g.101182477_101182480del	GRCh37
NC_000013.9:g.99980478_99980481del	NCBI36
NG_008768.1:g.446141_446144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1904_*1907del (GGACT) MANE Select	ENSP00000508020.1:n.*1904_*1907del
ENST00000376285.6:c.*57_*60del (PCCA) MANE Select	ENSP00000365462.1:n.*57_*60del
ENST00000636366.1:c.1442_1445del (PCCA)
ENST00000636475.1:c.1759_1762del (PCCA)
ENST00000637657.1:c.1904_1907del (PCCA)
ENST00000647303.1:c.*1728_*1731del (PCCA)	ENSP00000495663.1:n.*1728_*1731del
ENST00000376250.6:c.*1904_*1907del (GGACT)	ENSP00000365426.1:n.*1904_*1907del
ENST00000376279.7:c.*57_*60del (PCCA)	ENSP00000365456.3:n.*57_*60del
ENST00000376285.5:c.*57_*60del (PCCA)	ENSP00000365462.1:n.*57_*60del
ENST00000376286.8:c.*57_*60del (PCCA)	ENSP00000365463.4:n.*57_*60del
ENST00000428969.1:c.393_396del (PCCA)	ENSP00000399413.1:n.393_396del
ENST00000455100.2:c.*1904_*1907del (GGACT)	ENSP00000410449.1:n.*1904_*1907del
ENST00000458283.5:c.460_463del (PCCA)
NM_000282.3:c.*57_*60del (PCCA)	NP_000273.2:n.*57_*60del
NM_001127692.2:c.*57_*60del (PCCA)	NP_001121164.1:n.*57_*60del
NM_001178004.1:c.*57_*60del (PCCA)	NP_001171475.1:n.*57_*60del
NM_001195087.1:c.*1904_*1907del (GGACT)	NP_001182016.1:n.*1904_*1907del
NM_033110.2:c.*1904_*1907del (GGACT)	NP_149101.1:n.*1904_*1907del
XR_931615.1:n.2101_2104del (PCCA)
NM_001352605.1:c.*57_*60del (PCCA)	NP_001339534.1:n.*57_*60del
NM_001352606.1:c.*57_*60del (PCCA)	NP_001339535.1:n.*57_*60del
NM_001352607.1:c.*57_*60del (PCCA)	NP_001339536.1:n.*57_*60del
NM_001352608.1:c.*57_*60del (PCCA)	NP_001339537.1:n.*57_*60del
NM_001352610.1:c.*57_*60del (PCCA)	NP_001339539.1:n.*57_*60del
NM_001352611.1:c.*57_*60del (PCCA)	NP_001339540.1:n.*57_*60del
NM_001352612.1:c.*57_*60del (PCCA)	NP_001339541.1:n.*57_*60del
NR_148027.1:n.2293_2296del (PCCA)
NR_148028.1:n.2331_2334del (PCCA)
NR_148029.1:n.2253_2256del (PCCA)
NR_148030.1:n.2434_2437del (PCCA)
NR_148031.1:n.2247_2250del (PCCA)
XM_005254083.2:c.*1904_*1907del (GGACT)	XP_005254140.1:n.*1904_*1907del
XM_011521129.3:c.*1904_*1907del (GGACT)	XP_011519431.1:n.*1904_*1907del
XM_017020609.1:c.*57_*60del (PCCA)	XP_016876098.1:n.*57_*60del
XM_017020613.1:c.*172_*175del (PCCA)	XP_016876102.1:n.*172_*175del
XR_001749567.1:n.2424_2427del (PCCA)
XR_001749568.1:n.2511_2514del (PCCA)
XR_001749569.1:n.2370_2373del (PCCA)
XR_001749576.1:n.1981_1984del (PCCA)
XR_001749577.1:n.1878_1881del (PCCA)
NM_000282.4:c.*57_*60del (PCCA) MANE Select	NP_000273.2:n.*57_*60del
NM_001352605.2:c.*57_*60del (PCCA)	NP_001339534.1:n.*57_*60del
NM_001352606.2:c.*57_*60del (PCCA)	NP_001339535.1:n.*57_*60del
NM_001352607.2:c.*57_*60del (PCCA)	NP_001339536.1:n.*57_*60del
NM_001352608.2:c.*57_*60del (PCCA)	NP_001339537.1:n.*57_*60del
NM_001352610.2:c.*57_*60del (PCCA)	NP_001339539.1:n.*57_*60del
NM_001352611.2:c.*57_*60del (PCCA)	NP_001339540.1:n.*57_*60del
NM_001352612.2:c.*57_*60del (PCCA)	NP_001339541.1:n.*57_*60del
NR_148027.2:n.2215_2218del (PCCA)
NR_148028.2:n.2253_2256del (PCCA)
NR_148029.2:n.2175_2178del (PCCA)
NR_148030.2:n.2356_2359del (PCCA)
NR_148031.2:n.2169_2172del (PCCA)
NM_001127692.3:c.*57_*60del (PCCA)	NP_001121164.1:n.*57_*60del
NM_001178004.2:c.*57_*60del (PCCA)	NP_001171475.1:n.*57_*60del
NM_001195087.2:c.*1904_*1907del (GGACT) MANE Select	NP_001182016.1:n.*1904_*1907del
NM_033110.3:c.*1904_*1907del (GGACT)	NP_149101.1:n.*1904_*1907del