Canonical Allele Identifier: CA1225904
Community Standard Title: NM_198053.3(CD247):c.394-6_394-4del
Gene: CD247 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.167433066_167433068del , CM000663.2:g.167433066_167433068del GRCh38
NC_000001.10:g.167402303_167402305del , CM000663.1:g.167402303_167402305del GRCh37
NC_000001.9:g.165668927_165668929del NCBI36
NG_007384.1:g.90545_90547del , LRG_36:g.90545_90547del

Transcript Alleles

HGVS Amino-acid Change
NM_198053.3:c.394-6_394-4del MANE Select NP_932170.1:n.394-6_394-4del
ENST00000362089.10:c.394-6_394-4del MANE Select ENSP00000354782.5:n.394-6_394-4del
NM_000734.3:c.391-6_391-4del NP_000725.1:n.391-6_391-4del
NM_000734.4:c.391-6_391-4del NP_000725.1:n.391-6_391-4del
NM_001378515.1:c.487-6_487-4del NP_001365444.1:n.487-6_487-4del
NM_001378516.1:c.484-6_484-4del NP_001365445.1:n.484-6_484-4del
NM_198053.2:c.394-6_394-4del , LRG_36t1:c.394-6_394-4del NP_932170.1:n.394-6_394-4del
ENST00000362089.9:c.394-6_394-4del ENSP00000354782.5:n.394-6_394-4del
ENST00000392122.3:c.391-6_391-4del ENSP00000375969.3:n.391-6_391-4del
ENST00000392122.4:c.391-6_391-4del ENSP00000375969.3:n.391-6_391-4del
ENST00000470379.1:n.469-6_469-4del
ENST00000470379.2:c.106-6_106-4del ENSP00000514807.1:n.106-6_106-4del
ENST00000476733.5:n.453-6_453-4del
ENST00000476733.6:c.109-6_109-4del ENSP00000514806.1:n.109-6_109-4del
ENST00000483825.5:n.1780-6_1780-4del
ENST00000483825.6:n.1780-6_1780-4del
ENST00000485089.5:n.48-6_48-4del
ENST00000485089.6:c.91-6_91-4del ENSP00000514801.1:n.91-6_91-4del
ENST00000700105.1:c.394-6_394-4del ENSP00000514800.1:n.394-6_394-4del
ENST00000700106.1:c.418-6_418-4del ENSP00000514802.1:n.418-6_418-4del
ENST00000700107.1:c.415-6_415-4del ENSP00000514803.1:n.415-6_415-4del
ENST00000700108.1:c.106-6_106-4del ENSP00000514804.1:n.106-6_106-4del
ENST00000700109.1:c.109-6_109-4del ENSP00000514805.1:n.109-6_109-4del
ENST00000700110.1:n.333-6_333-4del
ENST00000700134.1:c.310-6_310-4del ENSP00000514822.1:n.310-6_310-4del
ENST00000700135.1:n.882-6_882-4del
ENST00000700136.1:n.1597-6_1597-4del
ENST00000700137.1:n.619-6_619-4del
ENST00000700138.1:n.419+955_419+957del
ENST00000700139.1:n.516-6_516-4del
ENST00000700155.1:c.108+955_108+957del ENSP00000514827.1:n.108+955_108+957del
ENST00000700156.1:c.106-6_106-4del ENSP00000514828.1:n.106-6_106-4del
ENST00000700157.1:c.235-6_235-4del ENSP00000514829.1:n.235-6_235-4del
ENST00000700158.1:c.106-6_106-4del ENSP00000514830.1:n.106-6_106-4del
ENST00000700159.1:c.390+955_390+957del ENSP00000514831.1:n.390+955_390+957del
ENST00000700160.1:c.106-6_106-4del ENSP00000514832.1:n.106-6_106-4del
ENST00000700163.1:c.91-6_91-4del ENSP00000514835.1:n.91-6_91-4del
ENST00000700164.1:n.184-6_184-4del
ENST00000700165.1:c.393+955_393+957del ENSP00000514836.1:n.393+955_393+957del
ENST00000700166.1:n.387-6_387-4del
ENST00000700167.1:c.*41-6_*41-4del ENSP00000514837.1:n.*41-6_*41-4del
ENST00000700168.1:n.187-6_187-4del
XM_011510144.1:c.418-6_418-4del XP_011508446.1:n.418-6_418-4del
XM_011510144.2:c.418-6_418-4del XP_011508446.1:n.418-6_418-4del
XM_011510145.1:c.415-6_415-4del XP_011508447.1:n.415-6_415-4del
XM_017002800.1:c.487-6_487-4del XP_016858289.1:n.487-6_487-4del
XM_017002801.1:c.484-6_484-4del XP_016858290.1:n.484-6_484-4del