Canonical Allele Identifier: CA2578033408

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5753122_5753123del , CM000666.2:g.5753122_5753123del GRCh38
NC_000004.11:g.5754849_5754850del , CM000666.1:g.5754849_5754850del GRCh37
NC_000004.10:g.5805750_5805751del NCBI36
NG_008843.1:g.46926_46927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.1315+70_1315+71del (EVC) MANE Select ENSP00000264956.6:n.1315+70_1315+71del
ENST00000264956.10:c.1315+70_1315+71del (EVC) ENSP00000264956.6:n.1315+70_1315+71del
ENST00000506216.5:n.1648-4808_1648-4807del (CRMP1)
ENST00000509451.1:c.1315+70_1315+71del (EVC) ENSP00000426774.1:n.1315+70_1315+71del
ENST00000514919.1:n.378+70_378+71del (EVC)
NM_001306090.1:c.1315+70_1315+71del (EVC) NP_001293019.1:n.1315+70_1315+71del
NM_001306092.1:c.1315+70_1315+71del (EVC) NP_001293021.1:n.1315+70_1315+71del
NM_153717.2:c.1315+70_1315+71del (EVC) NP_714928.1:n.1315+70_1315+71del
XM_006713865.2:c.1315+70_1315+71del (EVC) XP_006713928.1:n.1315+70_1315+71del
XM_006713866.2:c.1315+70_1315+71del (EVC) XP_006713929.1:n.1315+70_1315+71del
XM_011513419.1:c.1315+70_1315+71del (EVC) XP_011511721.1:n.1315+70_1315+71del
XR_427473.2:n.1505+70_1505+71del (EVC)
XR_427475.2:n.1505+70_1505+71del (EVC)
XR_427476.2:n.1505+70_1505+71del (EVC)
XR_924920.1:n.1505+70_1505+71del (EVC)
XR_924921.1:n.1505+70_1505+71del (EVC)
XR_924922.1:n.1505+70_1505+71del (EVC)
XR_924923.1:n.1505+70_1505+71del (EVC)
XR_924924.1:n.1505+70_1505+71del (EVC)
XR_924925.1:n.1505+70_1505+71del (EVC)
XR_924926.1:n.1505+70_1505+71del (EVC)
XR_924927.1:n.1505+70_1505+71del (EVC)
XR_924928.1:n.1507+70_1507+71del (EVC)
XM_006713865.3:c.1315+70_1315+71del (EVC) XP_006713928.1:n.1315+70_1315+71del
XM_006713866.3:c.1315+70_1315+71del (EVC) XP_006713929.1:n.1315+70_1315+71del
XM_011513419.2:c.1315+70_1315+71del (EVC) XP_011511721.1:n.1315+70_1315+71del
XM_017007883.2:c.1315+70_1315+71del (EVC) XP_016863372.1:n.1315+70_1315+71del
XR_001741164.1:n.1495+70_1495+71del (EVC)
XR_001741165.1:n.1495+70_1495+71del (EVC)
XR_001741166.1:n.1495+70_1495+71del (EVC)
XR_001741167.1:n.1495+70_1495+71del (EVC)
XR_001741168.1:n.1495+70_1495+71del (EVC)
XR_001741169.2:n.1359+70_1359+71del (EVC)
XR_001741170.1:n.1497+70_1497+71del (EVC)
XR_001741171.1:n.800+70_800+71del (EVC)
XR_427473.3:n.1495+70_1495+71del (EVC)
XR_427475.3:n.1495+70_1495+71del (EVC)
XR_427476.3:n.1495+70_1495+71del (EVC)
XR_924920.2:n.1495+70_1495+71del (EVC)
XR_924921.2:n.1495+70_1495+71del (EVC)
XR_924922.2:n.1495+70_1495+71del (EVC)
XR_924924.2:n.1495+70_1495+71del (EVC)
XR_924925.2:n.1495+70_1495+71del (EVC)
XR_924926.2:n.1495+70_1495+71del (EVC)
NM_153717.3:c.1315+70_1315+71del (EVC) MANE Select NP_714928.1:n.1315+70_1315+71del
NM_001306090.2:c.1315+70_1315+71del (EVC) NP_001293019.1:n.1315+70_1315+71del
NM_001306092.2:c.1315+70_1315+71del (EVC) NP_001293021.1:n.1315+70_1315+71del