Canonical Allele Identifier: CA1151530095

Gene: ESPN

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6448979_6448990del , CM000663.2:g.6448979_6448990del	GRCh38
NC_000001.10:g.6509039_6509050del , CM000663.1:g.6509039_6509050del	GRCh37
NC_000001.9:g.6431626_6431637del	NCBI36
NG_015866.1:g.29192_29203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461727.6:c.105_116del	ENSP00000465308.1:p.Pro36_Pro39del
ENST00000475228.6:c.-18+177_-18+188del	ENSP00000488721.2:n.-18+177_-18+188del
ENST00000636330.1:c.1803_1814del	ENSP00000490186.1:p.Pro602_Pro605del
ENST00000645284.1:c.1803_1814del MANE Select	ENSP00000496593.1:p.Pro602_Pro605del
ENST00000377828.5:c.1803_1814del	ENSP00000367059.1:p.Pro602_Pro605del
ENST00000416731.5:c.105_116del	ENSP00000399239.2:p.Pro36_Pro39del
ENST00000461727.5:c.105_116del	ENSP00000465308.1:p.Pro36_Pro39del
ENST00000475228.5:c.-21+177_-21+188del	ENSP00000488721.1:n.-21+177_-21+188del
ENST00000632593.1:n.448_459del
ENST00000632803.1:c.105_116del	ENSP00000487748.1:p.Pro36_Pro39del
NM_031475.2:c.1803_1814del	NP_113663.2:p.Pro602_Pro605del
XM_005263501.2:c.1713_1724del	XP_005263558.1:p.Pro572_Pro575del
XM_011542231.1:c.1713_1724del	XP_011540533.1:p.Pro572_Pro575del
XM_011542232.1:c.1713_1724del	XP_011540534.1:p.Pro572_Pro575del
XM_011542233.1:c.1317_1328del	XP_011540535.1:p.Pro440_Pro443del
XM_011542234.1:c.654_665del	XP_011540536.1:p.Pro219_Pro222del
XM_011542235.1:c.1713_1724del	XP_011540537.1:p.Pro572_Pro575del
XR_946774.1:n.2398_2409del
NM_031475.3:c.1803_1814del MANE Select	NP_113663.2:p.Pro602_Pro605del
XM_011542233.2:c.1317_1328del	XP_011540535.1:p.Pro440_Pro443del
XM_017002433.1:c.1713_1724del	XP_016857922.1:p.Pro572_Pro575del
XM_017002434.1:c.*325_*336del	XP_016857923.1:n.*325_*336del
XM_024450116.1:c.1713_1724del	XP_024305884.1:p.Pro572_Pro575del
NM_001367473.1:c.1713_1724del	NP_001354402.1:p.Pro572_Pro575del
NM_001367474.1:c.1713_1724del	NP_001354403.1:p.Pro572_Pro575del