Canonical Allele Identifier: CA2599375882

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs2153011098
• gnomAD v3: 13-100530276-T-TAA
• gnomAD v4: 13-100530276-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530277_100530278insAA , CM000675.2:g.100530277_100530278insAA	GRCh38
NC_000013.10:g.101182531_101182532insAA , CM000675.1:g.101182531_101182532insAA	GRCh37
NC_000013.9:g.99980532_99980533insAA	NCBI36
NG_008768.1:g.446195_446196insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1853_*1854insTT (GGACT) MANE Select	ENSP00000508020.1:n.*1853_*1854insTT
ENST00000376285.6:c.*111_*112insAA (PCCA) MANE Select	ENSP00000365462.1:n.*111_*112insAA
ENST00000636366.1:c.1496_1497insAA (PCCA)
ENST00000636475.1:c.1813_1814insAA (PCCA)
ENST00000637657.1:c.1958_1959insAA (PCCA)
ENST00000647303.1:c.*1782_*1783insAA (PCCA)	ENSP00000495663.1:n.*1782_*1783insAA
ENST00000376250.6:c.*1853_*1854insTT (GGACT)	ENSP00000365426.1:n.*1853_*1854insTT
ENST00000376279.7:c.*111_*112insAA (PCCA)	ENSP00000365456.3:n.*111_*112insAA
ENST00000376285.5:c.*111_*112insAA (PCCA)	ENSP00000365462.1:n.*111_*112insAA
ENST00000376286.8:c.*111_*112insAA (PCCA)	ENSP00000365463.4:n.*111_*112insAA
ENST00000428969.1:c.447_448insAA (PCCA)	ENSP00000399413.1:n.447_448insAA
ENST00000455100.2:c.*1853_*1854insTT (GGACT)	ENSP00000410449.1:n.*1853_*1854insTT
ENST00000458283.5:c.514_515insAA (PCCA)
NM_000282.3:c.*111_*112insAA (PCCA)	NP_000273.2:n.*111_*112insAA
NM_001127692.2:c.*111_*112insAA (PCCA)	NP_001121164.1:n.*111_*112insAA
NM_001178004.1:c.*111_*112insAA (PCCA)	NP_001171475.1:n.*111_*112insAA
NM_001195087.1:c.*1853_*1854insTT (GGACT)	NP_001182016.1:n.*1853_*1854insTT
NM_033110.2:c.*1853_*1854insTT (GGACT)	NP_149101.1:n.*1853_*1854insTT
XR_931615.1:n.2155_2156insAA (PCCA)
NM_001352605.1:c.*111_*112insAA (PCCA)	NP_001339534.1:n.*111_*112insAA
NM_001352606.1:c.*111_*112insAA (PCCA)	NP_001339535.1:n.*111_*112insAA
NM_001352607.1:c.*111_*112insAA (PCCA)	NP_001339536.1:n.*111_*112insAA
NM_001352608.1:c.*111_*112insAA (PCCA)	NP_001339537.1:n.*111_*112insAA
NM_001352610.1:c.*111_*112insAA (PCCA)	NP_001339539.1:n.*111_*112insAA
NM_001352611.1:c.*111_*112insAA (PCCA)	NP_001339540.1:n.*111_*112insAA
NM_001352612.1:c.*111_*112insAA (PCCA)	NP_001339541.1:n.*111_*112insAA
NR_148027.1:n.2347_2348insAA (PCCA)
NR_148028.1:n.2385_2386insAA (PCCA)
NR_148029.1:n.2307_2308insAA (PCCA)
NR_148030.1:n.2488_2489insAA (PCCA)
NR_148031.1:n.2301_2302insAA (PCCA)
XM_005254083.2:c.*1853_*1854insTT (GGACT)	XP_005254140.1:n.*1853_*1854insTT
XM_011521129.3:c.*1853_*1854insTT (GGACT)	XP_011519431.1:n.*1853_*1854insTT
XM_017020609.1:c.*111_*112insAA (PCCA)	XP_016876098.1:n.*111_*112insAA
XM_017020613.1:c.*226_*227insAA (PCCA)	XP_016876102.1:n.*226_*227insAA
XR_001749567.1:n.2478_2479insAA (PCCA)
XR_001749568.1:n.2565_2566insAA (PCCA)
XR_001749569.1:n.2424_2425insAA (PCCA)
XR_001749576.1:n.2035_2036insAA (PCCA)
XR_001749577.1:n.1932_1933insAA (PCCA)
NM_000282.4:c.*111_*112insAA (PCCA) MANE Select	NP_000273.2:n.*111_*112insAA
NM_001352605.2:c.*111_*112insAA (PCCA)	NP_001339534.1:n.*111_*112insAA
NM_001352606.2:c.*111_*112insAA (PCCA)	NP_001339535.1:n.*111_*112insAA
NM_001352607.2:c.*111_*112insAA (PCCA)	NP_001339536.1:n.*111_*112insAA
NM_001352608.2:c.*111_*112insAA (PCCA)	NP_001339537.1:n.*111_*112insAA
NM_001352610.2:c.*111_*112insAA (PCCA)	NP_001339539.1:n.*111_*112insAA
NM_001352611.2:c.*111_*112insAA (PCCA)	NP_001339540.1:n.*111_*112insAA
NM_001352612.2:c.*111_*112insAA (PCCA)	NP_001339541.1:n.*111_*112insAA
NR_148027.2:n.2269_2270insAA (PCCA)
NR_148028.2:n.2307_2308insAA (PCCA)
NR_148029.2:n.2229_2230insAA (PCCA)
NR_148030.2:n.2410_2411insAA (PCCA)
NR_148031.2:n.2223_2224insAA (PCCA)
NM_001127692.3:c.*111_*112insAA (PCCA)	NP_001121164.1:n.*111_*112insAA
NM_001178004.2:c.*111_*112insAA (PCCA)	NP_001171475.1:n.*111_*112insAA
NM_001195087.2:c.*1853_*1854insTT (GGACT) MANE Select	NP_001182016.1:n.*1853_*1854insTT
NM_033110.3:c.*1853_*1854insTT (GGACT)	NP_149101.1:n.*1853_*1854insTT