Canonical Allele Identifier: CA796667085

Linked Data

dbSNP Id: rs750538668

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5808181_5808188del , CM000666.2:g.5808181_5808188del GRCh38
NC_000004.11:g.5809908_5809915del , CM000666.1:g.5809908_5809915del GRCh37
NC_000004.10:g.5860809_5860816del NCBI36
NG_008843.1:g.101985_101992del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.2562-20_2562-13del (EVC) MANE Select ENSP00000264956.6:n.2562-20_2562-13del
ENST00000264956.10:c.2562-20_2562-13del (EVC) ENSP00000264956.6:n.2562-20_2562-13del
ENST00000506216.5:n.1647+17310_1647+17317del (CRMP1)
NM_001306090.1:c.2562-20_2562-13del (EVC) NP_001293019.1:n.2562-20_2562-13del
NM_153717.2:c.2562-20_2562-13del (EVC) NP_714928.1:n.2562-20_2562-13del
XM_006713865.2:c.2562-20_2562-13del (EVC) XP_006713928.1:n.2562-20_2562-13del
XM_006713866.2:c.2562-20_2562-13del (EVC) XP_006713929.1:n.2562-20_2562-13del
XR_427473.2:n.2752-20_2752-13del (EVC)
XR_427475.2:n.2752-20_2752-13del (EVC)
XR_427476.2:n.2752-20_2752-13del (EVC)
XR_924920.1:n.2752-20_2752-13del (EVC)
XR_924921.1:n.2752-20_2752-13del (EVC)
XR_924922.1:n.2752-20_2752-13del (EVC)
XR_924923.1:n.2752-20_2752-13del (EVC)
XR_924924.1:n.2752-20_2752-13del (EVC)
XR_924925.1:n.2752-20_2752-13del (EVC)
XR_924926.1:n.2752-20_2752-13del (EVC)
XR_924927.1:n.2752-20_2752-13del (EVC)
XM_006713865.3:c.2562-20_2562-13del (EVC) XP_006713928.1:n.2562-20_2562-13del
XM_006713866.3:c.2562-20_2562-13del (EVC) XP_006713929.1:n.2562-20_2562-13del
XR_001741164.1:n.2742-20_2742-13del (EVC)
XR_001741165.1:n.2742-20_2742-13del (EVC)
XR_001741166.1:n.2742-20_2742-13del (EVC)
XR_001741167.1:n.2742-20_2742-13del (EVC)
XR_001741168.1:n.2742-20_2742-13del (EVC)
XR_001741169.2:n.2606-20_2606-13del (EVC)
XR_001741170.1:n.2827-20_2827-13del (EVC)
XR_001741171.1:n.2047-20_2047-13del (EVC)
XR_427473.3:n.2742-20_2742-13del (EVC)
XR_427475.3:n.2742-20_2742-13del (EVC)
XR_427476.3:n.2742-20_2742-13del (EVC)
XR_924920.2:n.2742-20_2742-13del (EVC)
XR_924921.2:n.2742-20_2742-13del (EVC)
XR_924922.2:n.2742-20_2742-13del (EVC)
XR_924924.2:n.2742-20_2742-13del (EVC)
XR_924925.2:n.2742-20_2742-13del (EVC)
XR_924926.2:n.2742-20_2742-13del (EVC)
NM_153717.3:c.2562-20_2562-13del (EVC) MANE Select NP_714928.1:n.2562-20_2562-13del
NM_001306090.2:c.2562-20_2562-13del (EVC) NP_001293019.1:n.2562-20_2562-13del