Canonical Allele Identifier: CA1539589618

Gene: NIPBL CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064315_37064317delinsGAC , CM000667.2:g.37064315_37064317delinsGAC	GRCh38
NC_000005.9:g.37064417_37064419delinsGAC , CM000667.1:g.37064417_37064419delinsGAC	GRCh37
NC_000005.8:g.37100174_37100176delinsGAC	NCBI36
NG_006987.1:g.192433_192435delinsGAC
NG_006987.2:g.192433_192435delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-212_8050-210delinsGAC (NIPBL) MANE Select	ENSP00000282516.8:n.8050-212_8050-210delinsGAC
ENST00000652901.1:c.7944-212_7944-210delinsGAC (NIPBL)	ENSP00000499536.1:n.7944-212_7944-210delinsGAC
ENST00000282516.12:c.8050-212_8050-210delinsGAC (NIPBL)	ENSP00000282516.8:n.8050-212_8050-210delinsGAC
ENST00000514335.1:n.1973-212_1973-210delinsGAC (NIPBL)
ENST00000621733.1:c.1-263_1-261delinsGAC (NIPBL)	ENSP00000480694.1:n.1-263_1-261delinsGAC
NM_015384.4:c.*292_*294delinsGAC (NIPBL)	NP_056199.2:n.*292_*294delinsGAC
NM_133433.3:c.8050-212_8050-210delinsGAC (NIPBL)	NP_597677.2:n.8050-212_8050-210delinsGAC
XM_005248280.2:c.8091-212_8091-210delinsGAC (NIPBL)	XP_005248337.1:n.8091-212_8091-210delinsGAC
XM_005248282.3:c.7306-212_7306-210delinsGAC (NIPBL)	XP_005248339.2:n.7306-212_7306-210delinsGAC
XM_006714467.2:c.7903-212_7903-210delinsGAC (NIPBL)	XP_006714530.1:n.7903-212_7903-210delinsGAC
XM_006714468.1:c.7852-212_7852-210delinsGAC (NIPBL)	XP_006714531.1:n.7852-212_7852-210delinsGAC
XM_011514014.1:c.7669-212_7669-210delinsGAC (NIPBL)	XP_011512316.1:n.7669-212_7669-210delinsGAC
XM_005248280.3:c.8091-212_8091-210delinsGAC (NIPBL)	XP_005248337.1:n.8091-212_8091-210delinsGAC
XM_005248282.5:c.7390-212_7390-210delinsGAC (NIPBL)	XP_005248339.3:n.7390-212_7390-210delinsGAC
XM_006714468.2:c.7852-212_7852-210delinsGAC (NIPBL)	XP_006714531.1:n.7852-212_7852-210delinsGAC
XM_017009329.1:c.7944-212_7944-210delinsGAC (NIPBL)	XP_016864818.1:n.7944-212_7944-210delinsGAC
XM_017009330.2:c.6433-212_6433-210delinsGAC (NIPBL)	XP_016864819.1:n.6433-212_6433-210delinsGAC
XM_017009331.1:c.6424-212_6424-210delinsGAC (NIPBL)	XP_016864820.1:n.6424-212_6424-210delinsGAC
XR_925644.2:n.12365_12367delinsGTC (CPLANE1)
NM_133433.4:c.8050-212_8050-210delinsGAC (NIPBL) MANE Select	NP_597677.2:n.8050-212_8050-210delinsGAC
NM_015384.5:c.*292_*294delinsGAC (NIPBL)	NP_056199.2:n.*292_*294delinsGAC