Canonical Allele Identifier: CA1058845880

Gene: EVC

Linked Data

• gnomAD v3: 4-5711351-T-TGCGGCGGGGCGGCAGCCTGAGCGCCCCGGATGGCCC
• gnomAD v4: 4-5711351-T-TGCGGCGGGGCGGCAGCCTGAGCGCCCCGGATGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711365_5711400dup , CM000666.2:g.5711365_5711400dup	GRCh38
NC_000004.11:g.5713092_5713127dup , CM000666.1:g.5713092_5713127dup	GRCh37
NC_000004.10:g.5763993_5764028dup	NCBI36
NG_008843.1:g.5169_5204dup
NG_015821.1:g.3162_3197dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.-16_20dup MANE Select	ENSP00000264956.6:p.Ala8AlafsTer2
ENST00000264956.10:c.-16_20dup	ENSP00000264956.6:p.Ala8AlafsTer2
ENST00000509451.1:c.-16_20dup	ENSP00000426774.1:p.Ala8AlafsTer2
NM_001306090.1:c.-16_20dup	NP_001293019.1:p.Ala8AlafsTer2
NM_001306092.1:c.-16_20dup	NP_001293021.1:p.Ala8AlafsTer2
NM_153717.2:c.-16_20dup	NP_714928.1:p.Ala8AlafsTer2
XM_006713865.2:c.-16_20dup	XP_006713928.1:p.Ala8AlafsTer2
XM_006713866.2:c.-16_20dup	XP_006713929.1:p.Ala8AlafsTer2
XM_011513419.1:c.-16_20dup	XP_011511721.1:p.Ala8AlafsTer2
XR_427473.2:n.175_210dup
XR_427475.2:n.175_210dup
XR_427476.2:n.175_210dup
XR_924920.1:n.175_210dup
XR_924921.1:n.175_210dup
XR_924922.1:n.175_210dup
XR_924923.1:n.175_210dup
XR_924924.1:n.175_210dup
XR_924925.1:n.175_210dup
XR_924926.1:n.175_210dup
XR_924927.1:n.175_210dup
XR_924928.1:n.177_212dup
XM_006713865.3:c.-16_20dup	XP_006713928.1:p.Ala8AlafsTer2
XM_006713866.3:c.-16_20dup	XP_006713929.1:p.Ala8AlafsTer2
XM_011513419.2:c.-16_20dup	XP_011511721.1:p.Ala8AlafsTer2
XM_017007883.2:c.-16_20dup	XP_016863372.1:p.Ala8AlafsTer2
XR_001741164.1:n.165_200dup
XR_001741165.1:n.165_200dup
XR_001741166.1:n.165_200dup
XR_001741167.1:n.165_200dup
XR_001741168.1:n.165_200dup
XR_001741169.2:n.167_202dup
XR_001741170.1:n.167_202dup
XR_427473.3:n.165_200dup
XR_427475.3:n.165_200dup
XR_427476.3:n.165_200dup
XR_924920.2:n.165_200dup
XR_924921.2:n.165_200dup
XR_924922.2:n.165_200dup
XR_924924.2:n.165_200dup
XR_924925.2:n.165_200dup
XR_924926.2:n.165_200dup
NM_153717.3:c.-16_20dup MANE Select	NP_714928.1:p.Ala8AlafsTer2
NM_001306090.2:c.-16_20dup	NP_001293019.1:p.Ala8AlafsTer2
NM_001306092.2:c.-16_20dup	NP_001293021.1:p.Ala8AlafsTer2