Canonical Allele Identifier: CA560287

Gene: ESPN

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6448973_6448984del , CM000663.2:g.6448973_6448984del	GRCh38
NC_000001.10:g.6509033_6509044del , CM000663.1:g.6509033_6509044del	GRCh37
NC_000001.9:g.6431620_6431631del	NCBI36
NG_015866.1:g.29186_29197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461727.6:c.99_110del	ENSP00000465308.1:p.Pro34_Pro37del
ENST00000475228.6:c.-18+171_-18+182del	ENSP00000488721.2:n.-18+171_-18+182del
ENST00000636330.1:c.1797_1808del	ENSP00000490186.1:p.Pro600_Pro603del
ENST00000645284.1:c.1797_1808del MANE Select	ENSP00000496593.1:p.Pro600_Pro603del
ENST00000377828.5:c.1797_1808del	ENSP00000367059.1:p.Pro600_Pro603del
ENST00000416731.5:c.99_110del	ENSP00000399239.2:p.Pro34_Pro37del
ENST00000461727.5:c.99_110del	ENSP00000465308.1:p.Pro34_Pro37del
ENST00000475228.5:c.-21+171_-21+182del	ENSP00000488721.1:n.-21+171_-21+182del
ENST00000632593.1:n.442_453del
ENST00000632803.1:c.99_110del	ENSP00000487748.1:p.Pro34_Pro37del
NM_031475.2:c.1797_1808del	NP_113663.2:p.Pro600_Pro603del
XM_005263501.2:c.1707_1718del	XP_005263558.1:p.Pro570_Pro573del
XM_011542231.1:c.1707_1718del	XP_011540533.1:p.Pro570_Pro573del
XM_011542232.1:c.1707_1718del	XP_011540534.1:p.Pro570_Pro573del
XM_011542233.1:c.1311_1322del	XP_011540535.1:p.Pro438_Pro441del
XM_011542234.1:c.648_659del	XP_011540536.1:p.Pro217_Pro220del
XM_011542235.1:c.1707_1718del	XP_011540537.1:p.Pro570_Pro573del
XR_946774.1:n.2392_2403del
NM_031475.3:c.1797_1808del MANE Select	NP_113663.2:p.Pro600_Pro603del
XM_011542233.2:c.1311_1322del	XP_011540535.1:p.Pro438_Pro441del
XM_017002433.1:c.1707_1718del	XP_016857922.1:p.Pro570_Pro573del
XM_017002434.1:c.*319_*330del	XP_016857923.1:n.*319_*330del
XM_024450116.1:c.1707_1718del	XP_024305884.1:p.Pro570_Pro573del
NM_001367473.1:c.1707_1718del	NP_001354402.1:p.Pro570_Pro573del
NM_001367474.1:c.1707_1718del	NP_001354403.1:p.Pro570_Pro573del