Canonical Allele Identifier: CA2485266056
Community Standard Title: NM_015434.4(INTS7):c.2183+6330T=
Gene: INTS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.211960100A= , CM000663.2:g.211960100A= GRCh38
NC_000001.10:g.212133442A= , CM000663.1:g.212133442A= GRCh37
NC_000001.9:g.210200065A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015434.4:c.2183+6330T= MANE Select NP_056249.1:n.2183+6330T=
ENST00000366994.8:c.2183+6330T= MANE Select ENSP00000355961.3:n.2183+6330T=
NM_001199809.1:c.2036+6330T= NP_001186738.1:n.2036+6330T=
NM_001199809.2:c.2036+6330T= NP_001186738.1:n.2036+6330T=
NM_001199811.1:c.2183+6330T= NP_001186740.1:n.2183+6330T=
NM_001199811.2:c.2183+6330T= NP_001186740.1:n.2183+6330T=
NM_001199812.1:c.2183+6330T= NP_001186741.1:n.2183+6330T=
NM_001199812.2:c.2183+6330T= NP_001186741.1:n.2183+6330T=
NM_015434.3:c.2183+6330T= NP_056249.1:n.2183+6330T=
NR_037667.1:n.2440+6330T=
NR_037667.2:n.2337+6330T=
ENST00000366992.7:c.2183+6330T= ENSP00000355959.3:n.2183+6330T=
ENST00000366993.7:c.2183+6330T= ENSP00000355960.3:n.2183+6330T=
ENST00000366994.7:c.2183+6330T= ENSP00000355961.3:n.2183+6330T=
ENST00000440600.6:c.2036+6330T= ENSP00000388908.2:n.2036+6330T=
ENST00000461212.5:n.545+6330T=
ENST00000469606.5:c.*1953+6330T= ENSP00000481687.1:n.*1953+6330T=
ENST00000475798.5:c.548+6330T=
ENST00000612340.1:c.38+6330T= ENSP00000481102.1:n.38+6330T=
XM_011509396.1:c.2183+6330T= XP_011507698.1:n.2183+6330T=
XM_011509396.2:c.2183+6330T= XP_011507698.1:n.2183+6330T=
XM_011509397.1:c.2105+6330T= XP_011507699.1:n.2105+6330T=