Canonical Allele Identifier: CA1139659117
Community Standard Title: NM_018900.4(PCDHA1):c.2394+67303_2394+69956del
Gene: PCDHA10 HGNC NCBI
PCDHA1 HGNC NCBI
PCDHA3 HGNC NCBI
PCDHA7 HGNC NCBI
PCDHA2 HGNC NCBI
PCDHA6 HGNC NCBI
PCDHA5 HGNC NCBI
PCDHA4 HGNC NCBI
PCDHA8 HGNC NCBI
PCDHA9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140855987_140858640del , CM000667.2:g.140855987_140858640del GRCh38
NC_000005.9:g.140235572_140238225del , CM000667.1:g.140235572_140238225del GRCh37
NC_000005.8:g.140215756_140218409del NCBI36
NG_050674.1:g.5105_7758del
NG_050675.1:g.59790_62443del
NG_050677.1:g.66129_68782del

Transcript Alleles

HGVS Amino-acid Change
NM_018900.4:c.2394+67303_2394+69956del (PCDHA1) MANE Select NP_061723.1:n.2394+67303_2394+69956del
NM_018905.3:c.2388+58635_2388+61288del (PCDHA2) MANE Select NP_061728.1:n.2388+58635_2388+61288del
NM_018906.3:c.2394+52396_2394+55049del (PCDHA3) MANE Select NP_061729.1:n.2394+52396_2394+55049del
NM_018907.4:c.2385+46415_2385+49068del (PCDHA4) MANE Select NP_061730.1:n.2385+46415_2385+49068del
NM_018908.3:c.2352+31860_2352+34513del (PCDHA5) MANE Select NP_061731.1:n.2352+31860_2352+34513del
NM_018909.4:c.2394+25502_2394+28155del (PCDHA6) MANE Select NP_061732.1:n.2394+25502_2394+28155del
NM_018910.3:c.2355+19249_2355+21902del (PCDHA7) MANE Select NP_061733.1:n.2355+19249_2355+21902del
NM_018911.3:c.2394+12272_2394+14925del (PCDHA8) MANE Select NP_061734.1:n.2394+12272_2394+14925del
NM_031857.2:c.2394+5098_2394+7751del (PCDHA9) MANE Select NP_114063.1:n.2394+5098_2394+7751del
ENST00000504120.4:c.2394+67303_2394+69956del (PCDHA1) MANE Select ENSP00000420840.3:n.2394+67303_2394+69956del
ENST00000522353.3:c.2394+52396_2394+55049del (PCDHA3) MANE Select ENSP00000429808.2:n.2394+52396_2394+55049del
ENST00000525929.2:c.2355+19249_2355+21902del (PCDHA7) MANE Select ENSP00000436426.1:n.2355+19249_2355+21902del
ENST00000526136.2:c.2388+58635_2388+61288del (PCDHA2) MANE Select ENSP00000431748.1:n.2388+58635_2388+61288del
ENST00000529310.6:c.2394+25502_2394+28155del (PCDHA6) MANE Select ENSP00000433378.1:n.2394+25502_2394+28155del
ENST00000529859.2:c.2352+31860_2352+34513del (PCDHA5) MANE Select ENSP00000436557.1:n.2352+31860_2352+34513del
ENST00000530339.2:c.2385+46415_2385+49068del (PCDHA4) MANE Select ENSP00000435300.1:n.2385+46415_2385+49068del
ENST00000531613.2:c.2394+12272_2394+14925del (PCDHA8) MANE Select ENSP00000434655.1:n.2394+12272_2394+14925del
ENST00000532602.2:c.2394+5098_2394+7751del (PCDHA9) MANE Select ENSP00000436042.2:n.2394+5098_2394+7751del
NM_018900.3:c.2394+67303_2394+69956del (PCDHA1) NP_061723.1:n.2394+67303_2394+69956del
NM_018901.3:c.-62_2388+204del (PCDHA10)
NM_018901.4:c.-62_2388+204del (PCDHA10)
NM_018905.2:c.2388+58635_2388+61288del (PCDHA2) NP_061728.1:n.2388+58635_2388+61288del
NM_018906.2:c.2394+52396_2394+55049del (PCDHA3) NP_061729.1:n.2394+52396_2394+55049del
NM_018907.3:c.2385+46415_2385+49068del (PCDHA4) NP_061730.1:n.2385+46415_2385+49068del
NM_018908.2:c.2352+31860_2352+34513del (PCDHA5) NP_061731.1:n.2352+31860_2352+34513del
NM_018909.3:c.2394+25502_2394+28155del (PCDHA6) NP_061732.1:n.2394+25502_2394+28155del
NM_018910.2:c.2355+19249_2355+21902del (PCDHA7) NP_061733.1:n.2355+19249_2355+21902del
NM_018911.2:c.2394+12272_2394+14925del (PCDHA8) NP_061734.1:n.2394+12272_2394+14925del
NM_031411.2:c.1602+68095_1602+70748del (PCDHA1) NP_113599.1:n.1602+68095_1602+70748del
NM_031411.3:c.1602+68095_1602+70748del (PCDHA1) NP_113599.1:n.1602+68095_1602+70748del
NM_031849.2:c.1602+26294_1602+28947del (PCDHA6) NP_114037.1:n.1602+26294_1602+28947del
NM_031849.3:c.1602+26294_1602+28947del (PCDHA6) NP_114037.1:n.1602+26294_1602+28947del
NM_031857.1:c.2394+5098_2394+7751del (PCDHA9) NP_114063.1:n.2394+5098_2394+7751del
NM_031859.3:c.-62_*57del (PCDHA10)
NM_031860.2:c.-62_1599+993del (PCDHA10)
NM_031860.3:c.-62_1599+993del (PCDHA10)
ENST00000307360.6:c.-62_2388+204del (PCDHA10)
ENST00000394633.7:c.1602+68095_1602+70748del (PCDHA1) ENSP00000378129.3:n.1602+68095_1602+70748del
ENST00000504120.3:c.2394+67303_2394+69956del (PCDHA1) ENSP00000420840.2:n.2394+67303_2394+69956del
ENST00000512229.6:c.2385+46415_2385+49068del (PCDHA4) ENSP00000423470.2:n.2385+46415_2385+49068del
ENST00000522353.2:c.2394+52396_2394+55049del (PCDHA3) ENSP00000429808.2:n.2394+52396_2394+55049del
ENST00000525929.1:c.2355+19249_2355+21902del (PCDHA7) ENSP00000436426.1:n.2355+19249_2355+21902del
ENST00000526136.1:c.2388+58635_2388+61288del (PCDHA2) ENSP00000431748.1:n.2388+58635_2388+61288del
ENST00000527624.1:c.1602+26294_1602+28947del (PCDHA6) ENSP00000434113.1:n.1602+26294_1602+28947del
ENST00000529310.5:c.2394+25502_2394+28155del (PCDHA6) ENSP00000433378.1:n.2394+25502_2394+28155del
ENST00000529619.5:c.2352+31860_2352+34513del (PCDHA5) ENSP00000433416.1:n.2352+31860_2352+34513del
ENST00000529859.1:c.2352+31860_2352+34513del (PCDHA5) ENSP00000436557.1:n.2352+31860_2352+34513del
ENST00000530339.1:c.2385+46415_2385+49068del (PCDHA4) ENSP00000435300.1:n.2385+46415_2385+49068del
ENST00000531613.1:c.2394+12272_2394+14925del (PCDHA8) ENSP00000434655.1:n.2394+12272_2394+14925del
ENST00000532602.1:c.2394+5098_2394+7751del (PCDHA9) ENSP00000436042.1:n.2394+5098_2394+7751del
ENST00000562220.2:c.-62_*57del (PCDHA10)
Search 100 bp 5'
Search 100 bp 3'