Canonical Allele Identifier: CA2845552582

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000895_37000896del , CM000667.2:g.37000895_37000896del	GRCh38
NC_000005.9:g.37000997_37000998del , CM000667.1:g.37000997_37000998del	GRCh37
NC_000005.8:g.37036754_37036755del	NCBI36
NG_006987.1:g.129013_129014del
NG_006987.2:g.129013_129014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3574+7_3574+8del MANE Select	ENSP00000282516.8:n.3574+7_3574+8del
ENST00000652901.1:c.3574+7_3574+8del	ENSP00000499536.1:n.3574+7_3574+8del
ENST00000282516.12:c.3574+7_3574+8del	ENSP00000282516.8:n.3574+7_3574+8del
ENST00000448238.2:c.3574+7_3574+8del	ENSP00000406266.2:n.3574+7_3574+8del
ENST00000621733.1:c.1-63683_1-63682del	ENSP00000480694.1:n.1-63683_1-63682del
NM_015384.4:c.3574+7_3574+8del	NP_056199.2:n.3574+7_3574+8del
NM_133433.3:c.3574+7_3574+8del	NP_597677.2:n.3574+7_3574+8del
XM_005248280.2:c.3574+7_3574+8del	XP_005248337.1:n.3574+7_3574+8del
XM_005248282.3:c.2830+7_2830+8del	XP_005248339.2:n.2830+7_2830+8del
XM_006714467.2:c.3574+7_3574+8del	XP_006714530.1:n.3574+7_3574+8del
XM_006714468.1:c.3376+7_3376+8del	XP_006714531.1:n.3376+7_3376+8del
XM_011514014.1:c.3193+7_3193+8del	XP_011512316.1:n.3193+7_3193+8del
XM_011514015.1:c.3574+7_3574+8del	XP_011512317.1:n.3574+7_3574+8del
XM_005248280.3:c.3574+7_3574+8del	XP_005248337.1:n.3574+7_3574+8del
XM_005248282.5:c.2914+7_2914+8del	XP_005248339.3:n.2914+7_2914+8del
XM_006714468.2:c.3376+7_3376+8del	XP_006714531.1:n.3376+7_3376+8del
XM_017009329.1:c.3574+7_3574+8del	XP_016864818.1:n.3574+7_3574+8del
XM_017009330.2:c.1957+7_1957+8del	XP_016864819.1:n.1957+7_1957+8del
XM_017009331.1:c.1948+7_1948+8del	XP_016864820.1:n.1948+7_1948+8del
NM_133433.4:c.3574+7_3574+8del MANE Select	NP_597677.2:n.3574+7_3574+8del
NM_015384.5:c.3574+7_3574+8del	NP_056199.2:n.3574+7_3574+8del