Canonical Allele Identifier: CA1539599934

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995590_36995591delinsAT , CM000667.2:g.36995590_36995591delinsAT	GRCh38
NC_000005.9:g.36995692_36995693delinsAT , CM000667.1:g.36995692_36995693delinsAT	GRCh37
NC_000005.8:g.37031449_37031450delinsAT	NCBI36
NG_006987.1:g.123708_123709delinsAT
NG_006987.2:g.123708_123709delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-32_3122-31delinsAT MANE Select	ENSP00000282516.8:n.3122-32_3122-31delins...
ENST00000652901.1:c.3122-32_3122-31delinsAT	ENSP00000499536.1:n.3122-32_3122-31delins...
ENST00000282516.12:c.3122-32_3122-31delinsAT	ENSP00000282516.8:n.3122-32_3122-31delins...
ENST00000448238.2:c.3122-32_3122-31delinsAT	ENSP00000406266.2:n.3122-32_3122-31delins...
ENST00000503274.1:n.441_442delinsAT
ENST00000504430.5:n.2742-32_2742-31delinsAT
ENST00000621733.1:c.1-68988_1-68987delinsAT	ENSP00000480694.1:n.1-68988_1-68987delins...
NM_015384.4:c.3122-32_3122-31delinsAT	NP_056199.2:n.3122-32_3122-31delinsAT
NM_133433.3:c.3122-32_3122-31delinsAT	NP_597677.2:n.3122-32_3122-31delinsAT
XM_005248280.2:c.3122-32_3122-31delinsAT	XP_005248337.1:n.3122-32_3122-31delinsAT
XM_005248282.3:c.2378-32_2378-31delinsAT	XP_005248339.2:n.2378-32_2378-31delinsAT
XM_006714467.2:c.3122-32_3122-31delinsAT	XP_006714530.1:n.3122-32_3122-31delinsAT
XM_006714468.1:c.3122-32_3122-31delinsAT	XP_006714531.1:n.3122-32_3122-31delinsAT
XM_011514014.1:c.3122-5227_3122-5226delinsAT	XP_011512316.1:n.3122-5227_3122-5226delin...
XM_011514015.1:c.3122-32_3122-31delinsAT	XP_011512317.1:n.3122-32_3122-31delinsAT
XM_005248280.3:c.3122-32_3122-31delinsAT	XP_005248337.1:n.3122-32_3122-31delinsAT
XM_005248282.5:c.2462-32_2462-31delinsAT	XP_005248339.3:n.2462-32_2462-31delinsAT
XM_006714468.2:c.3122-32_3122-31delinsAT	XP_006714531.1:n.3122-32_3122-31delinsAT
XM_017009329.1:c.3122-32_3122-31delinsAT	XP_016864818.1:n.3122-32_3122-31delinsAT
XM_017009330.2:c.1505-32_1505-31delinsAT	XP_016864819.1:n.1505-32_1505-31delinsAT
XM_017009331.1:c.1496-32_1496-31delinsAT	XP_016864820.1:n.1496-32_1496-31delinsAT
NM_133433.4:c.3122-32_3122-31delinsAT MANE Select	NP_597677.2:n.3122-32_3122-31delinsAT
NM_015384.5:c.3122-32_3122-31delinsAT	NP_056199.2:n.3122-32_3122-31delinsAT