Canonical Allele Identifier: CA267567
Gene: NIPBL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37060964dup , CM000667.2:g.37060964dup GRCh38
NC_000005.9:g.37061066dup , CM000667.1:g.37061066dup GRCh37
NC_000005.8:g.37096823dup NCBI36
NG_006987.1:g.189082dup
NG_006987.2:g.189082dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.7806dup MANE Select ENSP00000282516.8:p.Asn2603Ter
ENST00000652901.1:c.7659dup ENSP00000499536.1:p.Asn2554Ter
ENST00000282516.12:c.7806dup ENSP00000282516.8:p.Asn2603Ter
ENST00000448238.2:c.7806dup ENSP00000406266.2:p.Asn2603Ter
ENST00000513819.1:c.263+1799dup ENSP00000421504.1:n.263+1799dup
ENST00000514335.1:n.1688dup
ENST00000621733.1:c.1-3614dup ENSP00000480694.1:n.1-3614dup
NM_015384.4:c.7806dup NP_056199.2:p.Asn2603Ter
NM_133433.3:c.7806dup NP_597677.2:p.Asn2603Ter
XM_005248280.2:c.7806dup XP_005248337.1:p.Asn2603Ter
XM_005248282.3:c.7062dup XP_005248339.2:p.Asn2355Ter
XM_006714467.2:c.7659dup XP_006714530.1:p.Asn2554Ter
XM_006714468.1:c.7608dup XP_006714531.1:p.Asn2537Ter
XM_011514014.1:c.7425dup XP_011512316.1:p.Asn2476Ter
XM_005248280.3:c.7806dup XP_005248337.1:p.Asn2603Ter
XM_005248282.5:c.7146dup XP_005248339.3:p.Asn2383Ter
XM_006714468.2:c.7608dup XP_006714531.1:p.Asn2537Ter
XM_017009329.1:c.7659dup XP_016864818.1:p.Asn2554Ter
XM_017009330.2:c.6189dup XP_016864819.1:p.Asn2064Ter
XM_017009331.1:c.6180dup XP_016864820.1:p.Asn2061Ter
NM_133433.4:c.7806dup MANE Select NP_597677.2:p.Asn2603Ter
NM_015384.5:c.7806dup NP_056199.2:p.Asn2603Ter
Search 100 bp 5'
Search 100 bp 3'