Canonical Allele Identifier: CA1539599831

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995550_36995554delinsGCTAA , CM000667.2:g.36995550_36995554delinsGCTAA	GRCh38
NC_000005.9:g.36995652_36995656delinsGCTAA , CM000667.1:g.36995652_36995656delinsGCTAA	GRCh37
NC_000005.8:g.37031409_37031413delinsGCTAA	NCBI36
NG_006987.1:g.123668_123672delinsGCTAA
NG_006987.2:g.123668_123672delinsGCTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-72_3122-68delinsGCTAA MANE Select	ENSP00000282516.8:n.3122-72_3122-68delins...
ENST00000652901.1:c.3122-72_3122-68delinsGCTAA	ENSP00000499536.1:n.3122-72_3122-68delins...
ENST00000282516.12:c.3122-72_3122-68delinsGCTAA	ENSP00000282516.8:n.3122-72_3122-68delins...
ENST00000448238.2:c.3122-72_3122-68delinsGCTAA	ENSP00000406266.2:n.3122-72_3122-68delins...
ENST00000503274.1:n.401_405delinsGCTAA
ENST00000504430.5:n.2742-72_2742-68delinsGCTAA
ENST00000621733.1:c.1-69028_1-69024delinsGCTAA	ENSP00000480694.1:n.1-69028_1-69024delins...
NM_015384.4:c.3122-72_3122-68delinsGCTAA	NP_056199.2:n.3122-72_3122-68delinsGCTAA
NM_133433.3:c.3122-72_3122-68delinsGCTAA	NP_597677.2:n.3122-72_3122-68delinsGCTAA
XM_005248280.2:c.3122-72_3122-68delinsGCTAA	XP_005248337.1:n.3122-72_3122-68delinsGCT...
XM_005248282.3:c.2378-72_2378-68delinsGCTAA	XP_005248339.2:n.2378-72_2378-68delinsGCT...
XM_006714467.2:c.3122-72_3122-68delinsGCTAA	XP_006714530.1:n.3122-72_3122-68delinsGCT...
XM_006714468.1:c.3122-72_3122-68delinsGCTAA	XP_006714531.1:n.3122-72_3122-68delinsGCT...
XM_011514014.1:c.3122-5267_3122-5263delinsGCTAA	XP_011512316.1:n.3122-5267_3122-5263delin...
XM_011514015.1:c.3122-72_3122-68delinsGCTAA	XP_011512317.1:n.3122-72_3122-68delinsGCT...
XM_005248280.3:c.3122-72_3122-68delinsGCTAA	XP_005248337.1:n.3122-72_3122-68delinsGCT...
XM_005248282.5:c.2462-72_2462-68delinsGCTAA	XP_005248339.3:n.2462-72_2462-68delinsGCT...
XM_006714468.2:c.3122-72_3122-68delinsGCTAA	XP_006714531.1:n.3122-72_3122-68delinsGCT...
XM_017009329.1:c.3122-72_3122-68delinsGCTAA	XP_016864818.1:n.3122-72_3122-68delinsGCT...
XM_017009330.2:c.1505-72_1505-68delinsGCTAA	XP_016864819.1:n.1505-72_1505-68delinsGCT...
XM_017009331.1:c.1496-72_1496-68delinsGCTAA	XP_016864820.1:n.1496-72_1496-68delinsGCT...
NM_133433.4:c.3122-72_3122-68delinsGCTAA MANE Select	NP_597677.2:n.3122-72_3122-68delinsGCTAA
NM_015384.5:c.3122-72_3122-68delinsGCTAA	NP_056199.2:n.3122-72_3122-68delinsGCTAA