Canonical Allele Identifier: CA611941276

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs1377372171
• gnomAD v2: 13-101182448-CAATTT-C
• MyVariant Identifiers: chr13:g.101182449_101182453del (hg19) ; chr13:g.100530195_100530199del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530199_100530203del , CM000675.2:g.100530199_100530203del	GRCh38
NC_000013.10:g.101182453_101182457del , CM000675.1:g.101182453_101182457del	GRCh37
NC_000013.9:g.99980454_99980458del	NCBI36
NG_008768.1:g.446117_446121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1931_*1935del (GGACT) MANE Select	ENSP00000508020.1:n.*1931_*1935del
ENST00000376285.6:c.*33_*37del (PCCA) MANE Select	ENSP00000365462.1:n.*33_*37del
ENST00000636366.1:c.1418_1422del (PCCA)
ENST00000636475.1:c.1735_1739del (PCCA)
ENST00000637657.1:c.1880_1884del (PCCA)
ENST00000647303.1:c.*1704_*1708del (PCCA)	ENSP00000495663.1:n.*1704_*1708del
ENST00000376250.6:c.*1931_*1935del (GGACT)	ENSP00000365426.1:n.*1931_*1935del
ENST00000376279.7:c.*33_*37del (PCCA)	ENSP00000365456.3:n.*33_*37del
ENST00000376285.5:c.*33_*37del (PCCA)	ENSP00000365462.1:n.*33_*37del
ENST00000376286.8:c.*33_*37del (PCCA)	ENSP00000365463.4:n.*33_*37del
ENST00000428969.1:c.369_373del (PCCA)	ENSP00000399413.1:n.369_373del
ENST00000455100.2:c.*1931_*1935del (GGACT)	ENSP00000410449.1:n.*1931_*1935del
ENST00000458283.5:c.436_440del (PCCA)
NM_000282.3:c.*33_*37del (PCCA)	NP_000273.2:n.*33_*37del
NM_001127692.2:c.*33_*37del (PCCA)	NP_001121164.1:n.*33_*37del
NM_001178004.1:c.*33_*37del (PCCA)	NP_001171475.1:n.*33_*37del
NM_001195087.1:c.*1931_*1935del (GGACT)	NP_001182016.1:n.*1931_*1935del
NM_033110.2:c.*1931_*1935del (GGACT)	NP_149101.1:n.*1931_*1935del
XR_931615.1:n.2077_2081del (PCCA)
NM_001352605.1:c.*33_*37del (PCCA)	NP_001339534.1:n.*33_*37del
NM_001352606.1:c.*33_*37del (PCCA)	NP_001339535.1:n.*33_*37del
NM_001352607.1:c.*33_*37del (PCCA)	NP_001339536.1:n.*33_*37del
NM_001352608.1:c.*33_*37del (PCCA)	NP_001339537.1:n.*33_*37del
NM_001352610.1:c.*33_*37del (PCCA)	NP_001339539.1:n.*33_*37del
NM_001352611.1:c.*33_*37del (PCCA)	NP_001339540.1:n.*33_*37del
NM_001352612.1:c.*33_*37del (PCCA)	NP_001339541.1:n.*33_*37del
NR_148027.1:n.2269_2273del (PCCA)
NR_148028.1:n.2307_2311del (PCCA)
NR_148029.1:n.2229_2233del (PCCA)
NR_148030.1:n.2410_2414del (PCCA)
NR_148031.1:n.2223_2227del (PCCA)
XM_005254083.2:c.*1931_*1935del (GGACT)	XP_005254140.1:n.*1931_*1935del
XM_011521129.3:c.*1931_*1935del (GGACT)	XP_011519431.1:n.*1931_*1935del
XM_017020609.1:c.*33_*37del (PCCA)	XP_016876098.1:n.*33_*37del
XM_017020613.1:c.*148_*152del (PCCA)	XP_016876102.1:n.*148_*152del
XR_001749567.1:n.2400_2404del (PCCA)
XR_001749568.1:n.2487_2491del (PCCA)
XR_001749569.1:n.2346_2350del (PCCA)
XR_001749576.1:n.1957_1961del (PCCA)
XR_001749577.1:n.1854_1858del (PCCA)
NM_000282.4:c.*33_*37del (PCCA) MANE Select	NP_000273.2:n.*33_*37del
NM_001352605.2:c.*33_*37del (PCCA)	NP_001339534.1:n.*33_*37del
NM_001352606.2:c.*33_*37del (PCCA)	NP_001339535.1:n.*33_*37del
NM_001352607.2:c.*33_*37del (PCCA)	NP_001339536.1:n.*33_*37del
NM_001352608.2:c.*33_*37del (PCCA)	NP_001339537.1:n.*33_*37del
NM_001352610.2:c.*33_*37del (PCCA)	NP_001339539.1:n.*33_*37del
NM_001352611.2:c.*33_*37del (PCCA)	NP_001339540.1:n.*33_*37del
NM_001352612.2:c.*33_*37del (PCCA)	NP_001339541.1:n.*33_*37del
NR_148027.2:n.2191_2195del (PCCA)
NR_148028.2:n.2229_2233del (PCCA)
NR_148029.2:n.2151_2155del (PCCA)
NR_148030.2:n.2332_2336del (PCCA)
NR_148031.2:n.2145_2149del (PCCA)
NM_001127692.3:c.*33_*37del (PCCA)	NP_001121164.1:n.*33_*37del
NM_001178004.2:c.*33_*37del (PCCA)	NP_001171475.1:n.*33_*37del
NM_001195087.2:c.*1931_*1935del (GGACT) MANE Select	NP_001182016.1:n.*1931_*1935del
NM_033110.3:c.*1931_*1935del (GGACT)	NP_149101.1:n.*1931_*1935del