Canonical Allele Identifier: CA2669811714

Gene: EVC CRMP1

Linked Data

• gnomAD v4: 4-5808111-GCAGCCTCCCTGCCTTCCTTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5808118_5808180del , CM000666.2:g.5808118_5808180del	GRCh38
NC_000004.11:g.5809845_5809907del , CM000666.1:g.5809845_5809907del	GRCh37
NC_000004.10:g.5860746_5860808del	NCBI36
NG_008843.1:g.101922_101984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.2562-83_2562-21del (EVC) MANE Select	ENSP00000264956.6:n.2562-83_2562-21del
ENST00000264956.10:c.2562-83_2562-21del (EVC)	ENSP00000264956.6:n.2562-83_2562-21del
ENST00000506216.5:n.1647+17320_1647+17382del (CRMP1)
NM_001306090.1:c.2562-83_2562-21del (EVC)	NP_001293019.1:n.2562-83_2562-21del
NM_153717.2:c.2562-83_2562-21del (EVC)	NP_714928.1:n.2562-83_2562-21del
XM_006713865.2:c.2562-83_2562-21del (EVC)	XP_006713928.1:n.2562-83_2562-21del
XM_006713866.2:c.2562-83_2562-21del (EVC)	XP_006713929.1:n.2562-83_2562-21del
XR_427473.2:n.2752-83_2752-21del (EVC)
XR_427475.2:n.2752-83_2752-21del (EVC)
XR_427476.2:n.2752-83_2752-21del (EVC)
XR_924920.1:n.2752-83_2752-21del (EVC)
XR_924921.1:n.2752-83_2752-21del (EVC)
XR_924922.1:n.2752-83_2752-21del (EVC)
XR_924923.1:n.2752-83_2752-21del (EVC)
XR_924924.1:n.2752-83_2752-21del (EVC)
XR_924925.1:n.2752-83_2752-21del (EVC)
XR_924926.1:n.2752-83_2752-21del (EVC)
XR_924927.1:n.2752-83_2752-21del (EVC)
XM_006713865.3:c.2562-83_2562-21del (EVC)	XP_006713928.1:n.2562-83_2562-21del
XM_006713866.3:c.2562-83_2562-21del (EVC)	XP_006713929.1:n.2562-83_2562-21del
XR_001741164.1:n.2742-83_2742-21del (EVC)
XR_001741165.1:n.2742-83_2742-21del (EVC)
XR_001741166.1:n.2742-83_2742-21del (EVC)
XR_001741167.1:n.2742-83_2742-21del (EVC)
XR_001741168.1:n.2742-83_2742-21del (EVC)
XR_001741169.2:n.2606-83_2606-21del (EVC)
XR_001741170.1:n.2827-83_2827-21del (EVC)
XR_001741171.1:n.2047-83_2047-21del (EVC)
XR_427473.3:n.2742-83_2742-21del (EVC)
XR_427475.3:n.2742-83_2742-21del (EVC)
XR_427476.3:n.2742-83_2742-21del (EVC)
XR_924920.2:n.2742-83_2742-21del (EVC)
XR_924921.2:n.2742-83_2742-21del (EVC)
XR_924922.2:n.2742-83_2742-21del (EVC)
XR_924924.2:n.2742-83_2742-21del (EVC)
XR_924925.2:n.2742-83_2742-21del (EVC)
XR_924926.2:n.2742-83_2742-21del (EVC)
NM_153717.3:c.2562-83_2562-21del (EVC) MANE Select	NP_714928.1:n.2562-83_2562-21del
NM_001306090.2:c.2562-83_2562-21del (EVC)	NP_001293019.1:n.2562-83_2562-21del