Canonical Allele Identifier: CA1539582955

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060813_37060814delinsTA , CM000667.2:g.37060813_37060814delinsTA	GRCh38
NC_000005.9:g.37060915_37060916delinsTA , CM000667.1:g.37060915_37060916delinsTA	GRCh37
NC_000005.8:g.37096672_37096673delinsTA	NCBI36
NG_006987.1:g.188931_188932delinsTA
NG_006987.2:g.188931_188932delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7686-31_7686-30delinsTA MANE Select	ENSP00000282516.8:n.7686-31_7686-30delinsTA
ENST00000652901.1:c.7539-31_7539-30delinsTA	ENSP00000499536.1:n.7539-31_7539-30delinsTA
ENST00000282516.12:c.7686-31_7686-30delinsTA	ENSP00000282516.8:n.7686-31_7686-30delinsTA
ENST00000448238.2:c.7686-31_7686-30delinsTA	ENSP00000406266.2:n.7686-31_7686-30delinsTA
ENST00000513819.1:c.263+1648_263+1649delinsTA	ENSP00000421504.1:n.263+1648_263+1649delinsTA
ENST00000514335.1:n.1568-31_1568-30delinsTA
ENST00000621733.1:c.1-3765_1-3764delinsTA	ENSP00000480694.1:n.1-3765_1-3764delinsTA
NM_015384.4:c.7686-31_7686-30delinsTA	NP_056199.2:n.7686-31_7686-30delinsTA
NM_133433.3:c.7686-31_7686-30delinsTA	NP_597677.2:n.7686-31_7686-30delinsTA
XM_005248280.2:c.7686-31_7686-30delinsTA	XP_005248337.1:n.7686-31_7686-30delinsTA
XM_005248282.3:c.6942-31_6942-30delinsTA	XP_005248339.2:n.6942-31_6942-30delinsTA
XM_006714467.2:c.7539-31_7539-30delinsTA	XP_006714530.1:n.7539-31_7539-30delinsTA
XM_006714468.1:c.7488-31_7488-30delinsTA	XP_006714531.1:n.7488-31_7488-30delinsTA
XM_011514014.1:c.7305-31_7305-30delinsTA	XP_011512316.1:n.7305-31_7305-30delinsTA
XM_011514015.1:c.7264-31_7264-30delinsTA	XP_011512317.1:n.7264-31_7264-30delinsTA
XM_005248280.3:c.7686-31_7686-30delinsTA	XP_005248337.1:n.7686-31_7686-30delinsTA
XM_005248282.5:c.7026-31_7026-30delinsTA	XP_005248339.3:n.7026-31_7026-30delinsTA
XM_006714468.2:c.7488-31_7488-30delinsTA	XP_006714531.1:n.7488-31_7488-30delinsTA
XM_017009329.1:c.7539-31_7539-30delinsTA	XP_016864818.1:n.7539-31_7539-30delinsTA
XM_017009330.2:c.6069-31_6069-30delinsTA	XP_016864819.1:n.6069-31_6069-30delinsTA
XM_017009331.1:c.6060-31_6060-30delinsTA	XP_016864820.1:n.6060-31_6060-30delinsTA
NM_133433.4:c.7686-31_7686-30delinsTA MANE Select	NP_597677.2:n.7686-31_7686-30delinsTA
NM_015384.5:c.7686-31_7686-30delinsTA	NP_056199.2:n.7686-31_7686-30delinsTA