Canonical Allele Identifier: CA16612522
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs1060503185
MyVariant Identifiers: chr8:g.61765447_61765448del (hg19) chr8:g.60852888_60852889del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60852888_60852889del , CM000670.2:g.60852888_60852889del GRCh38
NC_000008.10:g.61765447_61765448del , CM000670.1:g.61765447_61765448del GRCh37
NC_000008.9:g.61928001_61928002del NCBI36
NG_007009.1:g.179109_179110del , LRG_176:g.179109_179110del

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.6163_6164del ENSP00000512218.1:p.Leu2055ValfsTer4
ENST00000423902.7:c.6163_6164del MANE Select ENSP00000392028.1:p.Leu2055ValfsTer4
ENST00000423902.6:c.6163_6164del ENSP00000392028.1:p.Leu2055ValfsTer4
ENST00000524602.5:c.1717-9341_1717-9340del ENSP00000437061.1:n.1717-9341_1717-9340de...
NM_001316690.1:c.1717-9341_1717-9340del NP_001303619.1:n.1717-9341_1717-9340del
NM_017780.3:c.6163_6164del NP_060250.2:p.Leu2055ValfsTer4
XM_011517553.1:c.6253_6254del XP_011515855.1:p.Leu2085ValfsTer4
XM_011517554.1:c.6253_6254del XP_011515856.1:p.Leu2085ValfsTer4
XM_011517555.1:c.6253_6254del XP_011515857.1:p.Leu2085ValfsTer4
XM_011517556.1:c.6253_6254del XP_011515858.1:p.Leu2085ValfsTer4
XM_011517557.1:c.4240_4241del XP_011515859.1:p.Leu1414ValfsTer4
XM_011517558.1:c.3790_3791del XP_011515860.1:p.Leu1264ValfsTer4
XM_011517559.1:c.2998_2999del XP_011515861.1:p.Leu1000ValfsTer4
XM_011517553.2:c.6253_6254del XP_011515855.1:p.Leu2085ValfsTer4
XM_011517554.3:c.6253_6254del XP_011515856.1:p.Leu2085ValfsTer4
XM_011517555.2:c.6253_6254del XP_011515857.1:p.Leu2085ValfsTer4
XM_017013612.1:c.6253_6254del XP_016869101.1:p.Leu2085ValfsTer4
XM_017013613.1:c.6163_6164del XP_016869102.1:p.Leu2055ValfsTer4
NM_017780.4:c.6163_6164del MANE Select NP_060250.2:p.Leu2055ValfsTer4
Search 100 bp 5'
Search 100 bp 3'