Canonical Allele Identifier: CA1551354
Community Standard Title: NM_006277.3(ITSN2):c.1864-47_1864-46del
Gene: ITSN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.24284914_24284915del , CM000664.2:g.24284914_24284915del GRCh38
NC_000002.11:g.24507783_24507784del , CM000664.1:g.24507783_24507784del GRCh37
NC_000002.10:g.24361287_24361288del NCBI36
NG_029516.1:g.80639_80640del

Transcript Alleles

HGVS Amino-acid Change
NM_006277.3:c.1864-47_1864-46del MANE Select NP_006268.2:n.1864-47_1864-46del
ENST00000355123.9:c.1864-47_1864-46del MANE Select ENSP00000347244.4:n.1864-47_1864-46del
NM_001348181.1:c.1822-47_1822-46del NP_001335110.1:n.1822-47_1822-46del
NM_001348181.2:c.1822-47_1822-46del NP_001335110.1:n.1822-47_1822-46del
NM_001348182.1:c.1863+1322_1863+1323del NP_001335111.1:n.1863+1322_1863+1323del
NM_001348182.2:c.1863+1322_1863+1323del NP_001335111.1:n.1863+1322_1863+1323del
NM_001348183.1:c.1863+1322_1863+1323del NP_001335112.1:n.1863+1322_1863+1323del
NM_001348183.2:c.1863+1322_1863+1323del NP_001335112.1:n.1863+1322_1863+1323del
NM_001348184.1:c.1821+1322_1821+1323del NP_001335113.1:n.1821+1322_1821+1323del
NM_001348184.2:c.1821+1322_1821+1323del NP_001335113.1:n.1821+1322_1821+1323del
NM_001348185.1:c.1864-47_1864-46del NP_001335114.1:n.1864-47_1864-46del
NM_001348185.2:c.1864-47_1864-46del NP_001335114.1:n.1864-47_1864-46del
NM_001348186.1:c.1863+1322_1863+1323del NP_001335115.1:n.1863+1322_1863+1323del
NM_001348186.2:c.1863+1322_1863+1323del NP_001335115.1:n.1863+1322_1863+1323del
NM_006277.2:c.1864-47_1864-46del NP_006268.2:n.1864-47_1864-46del
NM_019595.3:c.1863+1322_1863+1323del NP_062541.3:n.1863+1322_1863+1323del
NM_019595.4:c.1863+1322_1863+1323del NP_062541.3:n.1863+1322_1863+1323del
NM_147152.2:c.1864-47_1864-46del NP_671494.2:n.1864-47_1864-46del
NM_147152.3:c.1864-47_1864-46del NP_671494.2:n.1864-47_1864-46del
ENST00000355123.8:c.1864-47_1864-46del ENSP00000347244.4:n.1864-47_1864-46del
ENST00000361999.7:c.1863+1322_1863+1323del ENSP00000354561.2:n.1863+1322_1863+1323del
ENST00000406921.7:c.1864-47_1864-46del ENSP00000384499.3:n.1864-47_1864-46del
ENST00000622089.4:c.1893+1322_1893+1323del ENSP00000479408.1:n.1893+1322_1893+1323del
XM_024452930.1:c.1864-47_1864-46del XP_024308698.1:n.1864-47_1864-46del
XM_024452931.1:c.1864-47_1864-46del XP_024308699.1:n.1864-47_1864-46del
XM_024452932.1:c.1822-47_1822-46del XP_024308700.1:n.1822-47_1822-46del
XM_024452933.1:c.1864-47_1864-46del XP_024308701.1:n.1864-47_1864-46del
XM_024452934.1:c.1863+1322_1863+1323del XP_024308702.1:n.1863+1322_1863+1323del
XM_024452935.1:c.1821+1322_1821+1323del XP_024308703.1:n.1821+1322_1821+1323del
XM_024452936.1:c.1822-47_1822-46del XP_024308704.1:n.1822-47_1822-46del
XR_002959302.1:n.1852-47_1852-46del