Canonical Allele Identifier: CA1539601987

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001333_37001352delinsTACTCTGTGCTATCAAGAAA , CM000667.2:g.37001333_37001352delinsTACTCTGTGCTATCAAGAAA	GRCh38
NC_000005.9:g.37001435_37001454delinsTACTCTGTGCTATCAAGAAA , CM000667.1:g.37001435_37001454delinsTACTCTGTGCTATCAAGAAA	GRCh37
NC_000005.8:g.37037192_37037211delinsTACTCTGTGCTATCAAGAAA	NCBI36
NG_006987.1:g.129451_129470delinsTACTCTGTGCTATCAAGAAA
NG_006987.2:g.129451_129470delinsTACTCTGTGCTATCAAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA MANE Select	ENSP00000282516.8:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGA...
ENST00000652901.1:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	ENSP00000499536.1:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGA...
ENST00000282516.12:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	ENSP00000282516.8:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGA...
ENST00000448238.2:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	ENSP00000406266.2:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGA...
ENST00000621733.1:c.1-63245_1-63226delinsTACTCTGTGCTATCAAGAAA	ENSP00000480694.1:n.1-63245_1-63226delinsTACTCTGTGCTATCAAGAAA...
NM_015384.4:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	NP_056199.2:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA
NM_133433.3:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	NP_597677.2:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA
XM_005248280.2:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	XP_005248337.1:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA
XM_005248282.3:c.2920+255_2920+274delinsTACTCTGTGCTATCAAGAAA	XP_005248339.2:n.2920+255_2920+274delinsTACTCTGTGCTATCAAGAAA
XM_006714467.2:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	XP_006714530.1:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA
XM_006714468.1:c.3466+255_3466+274delinsTACTCTGTGCTATCAAGAAA	XP_006714531.1:n.3466+255_3466+274delinsTACTCTGTGCTATCAAGAAA
XM_011514014.1:c.3283+255_3283+274delinsTACTCTGTGCTATCAAGAAA	XP_011512316.1:n.3283+255_3283+274delinsTACTCTGTGCTATCAAGAAA
XM_011514015.1:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	XP_011512317.1:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA
XM_005248280.3:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	XP_005248337.1:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA
XM_005248282.5:c.3004+255_3004+274delinsTACTCTGTGCTATCAAGAAA	XP_005248339.3:n.3004+255_3004+274delinsTACTCTGTGCTATCAAGAAA
XM_006714468.2:c.3466+255_3466+274delinsTACTCTGTGCTATCAAGAAA	XP_006714531.1:n.3466+255_3466+274delinsTACTCTGTGCTATCAAGAAA
XM_017009329.1:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	XP_016864818.1:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA
XM_017009330.2:c.2047+255_2047+274delinsTACTCTGTGCTATCAAGAAA	XP_016864819.1:n.2047+255_2047+274delinsTACTCTGTGCTATCAAGAAA
XM_017009331.1:c.2038+255_2038+274delinsTACTCTGTGCTATCAAGAAA	XP_016864820.1:n.2038+255_2038+274delinsTACTCTGTGCTATCAAGAAA
NM_133433.4:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA MANE Select	NP_597677.2:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA
NM_015384.5:c.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA	NP_056199.2:n.3664+255_3664+274delinsTACTCTGTGCTATCAAGAAA