Canonical Allele Identifier: CA1539537224
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876823_36876836delinsTCCCCCCGCCCTCC , CM000667.2:g.36876823_36876836delinsTCCCCCCGCCCTCC GRCh38
NC_000005.9:g.36876925_36876938delinsTCCCCCCGCCCTCC , CM000667.1:g.36876925_36876938delinsTCCCCCCGCCCTCC GRCh37
NC_000005.8:g.36912682_36912695delinsTCCCCCCGCCCTCC NCBI36
NG_006987.1:g.4941_4954delinsTCCCCCCGCCCTCC
NG_006987.2:g.4941_4954delinsTCCCCCCGCCCTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.-435_-422delinsTCCCCCCGCCCTCC MANE Select ENSP00000282516.8:n.-435_-422delinsTCCCCCCGCCCTCC
ENST00000282516.12:c.-435_-422delinsTCCCCCCGCCCTCC ENSP00000282516.8:n.-435_-422delinsTCCCCCCGCCCTCC
ENST00000448238.2:c.-435_-422delinsTCCCCCCGCCCTCC ENSP00000406266.2:n.-435_-422delinsTCCCCCCGCCCTCC
NM_015384.4:c.-435_-422delinsTCCCCCCGCCCTCC NP_056199.2:n.-435_-422delinsTCCCCCCGCCCTCC
NM_133433.3:c.-435_-422delinsTCCCCCCGCCCTCC NP_597677.2:n.-435_-422delinsTCCCCCCGCCCTCC
XM_005248280.2:c.-435_-422delinsTCCCCCCGCCCTCC XP_005248337.1:n.-435_-422delinsTCCCCCCGCCCTCC
XM_006714467.2:c.-435_-422delinsTCCCCCCGCCCTCC XP_006714530.1:n.-435_-422delinsTCCCCCCGCCCTCC
XM_006714468.1:c.-435_-422delinsTCCCCCCGCCCTCC XP_006714531.1:n.-435_-422delinsTCCCCCCGCCCTCC
XM_011514014.1:c.-435_-422delinsTCCCCCCGCCCTCC XP_011512316.1:n.-435_-422delinsTCCCCCCGCCCTCC
XM_011514015.1:c.-435_-422delinsTCCCCCCGCCCTCC XP_011512317.1:n.-435_-422delinsTCCCCCCGCCCTCC
XM_005248280.3:c.-435_-422delinsTCCCCCCGCCCTCC XP_005248337.1:n.-435_-422delinsTCCCCCCGCCCTCC
XM_006714468.2:c.-435_-422delinsTCCCCCCGCCCTCC XP_006714531.1:n.-435_-422delinsTCCCCCCGCCCTCC
XM_017009329.1:c.-435_-422delinsTCCCCCCGCCCTCC XP_016864818.1:n.-435_-422delinsTCCCCCCGCCCTCC
XM_017009331.1:c.-435_-422delinsTCCCCCCGCCCTCC XP_016864820.1:n.-435_-422delinsTCCCCCCGCCCTCC
NM_133433.4:c.-435_-422delinsTCCCCCCGCCCTCC MANE Select NP_597677.2:n.-435_-422delinsTCCCCCCGCCCTCC
NM_015384.5:c.-435_-422delinsTCCCCCCGCCCTCC NP_056199.2:n.-435_-422delinsTCCCCCCGCCCTCC