Canonical Allele Identifier: CA2522656544
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37060675_37060676insTC , CM000667.2:g.37060675_37060676insTC GRCh38
NC_000005.9:g.37060777_37060778insTC , CM000667.1:g.37060777_37060778insTC GRCh37
NC_000005.8:g.37096534_37096535insTC NCBI36
NG_006987.1:g.188793_188794insTC
NG_006987.2:g.188793_188794insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.7686-169_7686-168insTC MANE Select ENSP00000282516.8:n.7686-169_7686-168insTC
ENST00000652901.1:c.7539-169_7539-168insTC ENSP00000499536.1:n.7539-169_7539-168insTC
ENST00000282516.12:c.7686-169_7686-168insTC ENSP00000282516.8:n.7686-169_7686-168insTC
ENST00000448238.2:c.7686-169_7686-168insTC ENSP00000406266.2:n.7686-169_7686-168insTC
ENST00000513819.1:c.263+1510_263+1511insTC ENSP00000421504.1:n.263+1510_263+1511insTC
ENST00000514335.1:n.1568-169_1568-168insTC
ENST00000621733.1:c.1-3903_1-3902insTC ENSP00000480694.1:n.1-3903_1-3902insTC
NM_015384.4:c.7686-169_7686-168insTC NP_056199.2:n.7686-169_7686-168insTC
NM_133433.3:c.7686-169_7686-168insTC NP_597677.2:n.7686-169_7686-168insTC
XM_005248280.2:c.7686-169_7686-168insTC XP_005248337.1:n.7686-169_7686-168insTC
XM_005248282.3:c.6942-169_6942-168insTC XP_005248339.2:n.6942-169_6942-168insTC
XM_006714467.2:c.7539-169_7539-168insTC XP_006714530.1:n.7539-169_7539-168insTC
XM_006714468.1:c.7488-169_7488-168insTC XP_006714531.1:n.7488-169_7488-168insTC
XM_011514014.1:c.7305-169_7305-168insTC XP_011512316.1:n.7305-169_7305-168insTC
XM_011514015.1:c.7264-169_7264-168insTC XP_011512317.1:n.7264-169_7264-168insTC
XM_005248280.3:c.7686-169_7686-168insTC XP_005248337.1:n.7686-169_7686-168insTC
XM_005248282.5:c.7026-169_7026-168insTC XP_005248339.3:n.7026-169_7026-168insTC
XM_006714468.2:c.7488-169_7488-168insTC XP_006714531.1:n.7488-169_7488-168insTC
XM_017009329.1:c.7539-169_7539-168insTC XP_016864818.1:n.7539-169_7539-168insTC
XM_017009330.2:c.6069-169_6069-168insTC XP_016864819.1:n.6069-169_6069-168insTC
XM_017009331.1:c.6060-169_6060-168insTC XP_016864820.1:n.6060-169_6060-168insTC
NM_133433.4:c.7686-169_7686-168insTC MANE Select NP_597677.2:n.7686-169_7686-168insTC
NM_015384.5:c.7686-169_7686-168insTC NP_056199.2:n.7686-169_7686-168insTC