Canonical Allele Identifier: CA2642974799

Gene: ESPN

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6448961_6448972del , CM000663.2:g.6448961_6448972del	GRCh38
NC_000001.10:g.6509021_6509032del , CM000663.1:g.6509021_6509032del	GRCh37
NC_000001.9:g.6431608_6431619del	NCBI36
NG_015866.1:g.29174_29185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461727.6:c.87_98del	ENSP00000465308.1:p.Pro30_Pro33del
ENST00000475228.6:c.-18+159_-18+170del	ENSP00000488721.2:n.-18+159_-18+170del
ENST00000636330.1:c.1785_1796del	ENSP00000490186.1:p.Pro596_Pro599del
ENST00000645284.1:c.1785_1796del MANE Select	ENSP00000496593.1:p.Pro596_Pro599del
ENST00000377828.5:c.1785_1796del	ENSP00000367059.1:p.Pro596_Pro599del
ENST00000416731.5:c.87_98del	ENSP00000399239.2:p.Pro30_Pro33del
ENST00000461727.5:c.87_98del	ENSP00000465308.1:p.Pro30_Pro33del
ENST00000475228.5:c.-21+159_-21+170del	ENSP00000488721.1:n.-21+159_-21+170del
ENST00000632593.1:n.430_441del
ENST00000632803.1:c.87_98del	ENSP00000487748.1:p.Pro30_Pro33del
NM_031475.2:c.1785_1796del	NP_113663.2:p.Pro596_Pro599del
XM_005263501.2:c.1695_1706del	XP_005263558.1:p.Pro566_Pro569del
XM_011542231.1:c.1695_1706del	XP_011540533.1:p.Pro566_Pro569del
XM_011542232.1:c.1695_1706del	XP_011540534.1:p.Pro566_Pro569del
XM_011542233.1:c.1299_1310del	XP_011540535.1:p.Pro434_Pro437del
XM_011542234.1:c.636_647del	XP_011540536.1:p.Pro213_Pro216del
XM_011542235.1:c.1695_1706del	XP_011540537.1:p.Pro566_Pro569del
XR_946774.1:n.2380_2391del
NM_031475.3:c.1785_1796del MANE Select	NP_113663.2:p.Pro596_Pro599del
XM_011542233.2:c.1299_1310del	XP_011540535.1:p.Pro434_Pro437del
XM_017002433.1:c.1695_1706del	XP_016857922.1:p.Pro566_Pro569del
XM_017002434.1:c.*307_*318del	XP_016857923.1:n.*307_*318del
XM_024450116.1:c.1695_1706del	XP_024305884.1:p.Pro566_Pro569del
NM_001367473.1:c.1695_1706del	NP_001354402.1:p.Pro566_Pro569del
NM_001367474.1:c.1695_1706del	NP_001354403.1:p.Pro566_Pro569del