Canonical Allele Identifier: CA1539601968

Gene: NIPBL

Linked Data

• dbSNP Id: rs1746774451

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001319_37001320insCAGTTACTCTATATATGCCT , CM000667.2:g.37001319_37001320insCAGTTACTCTATATATGCCT	GRCh38
NC_000005.9:g.37001421_37001422insCAGTTACTCTATATATGCCT , CM000667.1:g.37001421_37001422insCAGTTACTCTATATATGCCT	GRCh37
NC_000005.8:g.37037178_37037179insCAGTTACTCTATATATGCCT	NCBI36
NG_006987.1:g.129437_129438insCAGTTACTCTATATATGCCT
NG_006987.2:g.129437_129438insCAGTTACTCTATATATGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3664+241_3664+242insCAGTTACTCTATATATGCCT MANE Select	ENSP00000282516.8:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
ENST00000652901.1:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	ENSP00000499536.1:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
ENST00000282516.12:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	ENSP00000282516.8:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
ENST00000448238.2:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	ENSP00000406266.2:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
ENST00000621733.1:c.1-63259_1-63258insCAGTTACTCTATATATGCCT	ENSP00000480694.1:n.1-63259_1-63258insCAGTTACTCTATATATGCCT
NM_015384.4:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	NP_056199.2:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
NM_133433.3:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	NP_597677.2:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
XM_005248280.2:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	XP_005248337.1:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
XM_005248282.3:c.2920+241_2920+242insCAGTTACTCTATATATGCCT	XP_005248339.2:n.2920+241_2920+242insCAGTTACTCTATATATGCCT
XM_006714467.2:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	XP_006714530.1:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
XM_006714468.1:c.3466+241_3466+242insCAGTTACTCTATATATGCCT	XP_006714531.1:n.3466+241_3466+242insCAGTTACTCTATATATGCCT
XM_011514014.1:c.3283+241_3283+242insCAGTTACTCTATATATGCCT	XP_011512316.1:n.3283+241_3283+242insCAGTTACTCTATATATGCCT
XM_011514015.1:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	XP_011512317.1:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
XM_005248280.3:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	XP_005248337.1:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
XM_005248282.5:c.3004+241_3004+242insCAGTTACTCTATATATGCCT	XP_005248339.3:n.3004+241_3004+242insCAGTTACTCTATATATGCCT
XM_006714468.2:c.3466+241_3466+242insCAGTTACTCTATATATGCCT	XP_006714531.1:n.3466+241_3466+242insCAGTTACTCTATATATGCCT
XM_017009329.1:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	XP_016864818.1:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
XM_017009330.2:c.2047+241_2047+242insCAGTTACTCTATATATGCCT	XP_016864819.1:n.2047+241_2047+242insCAGTTACTCTATATATGCCT
XM_017009331.1:c.2038+241_2038+242insCAGTTACTCTATATATGCCT	XP_016864820.1:n.2038+241_2038+242insCAGTTACTCTATATATGCCT
NM_133433.4:c.3664+241_3664+242insCAGTTACTCTATATATGCCT MANE Select	NP_597677.2:n.3664+241_3664+242insCAGTTACTCTATATATGCCT
NM_015384.5:c.3664+241_3664+242insCAGTTACTCTATATATGCCT	NP_056199.2:n.3664+241_3664+242insCAGTTACTCTATATATGCCT