Canonical Allele Identifier: CA1539601453

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000959_37000960delinsGA , CM000667.2:g.37000959_37000960delinsGA	GRCh38
NC_000005.9:g.37001061_37001062delinsGA , CM000667.1:g.37001061_37001062delinsGA	GRCh37
NC_000005.8:g.37036818_37036819delinsGA	NCBI36
NG_006987.1:g.129077_129078delinsGA
NG_006987.2:g.129077_129078delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3575-30_3575-29delinsGA MANE Select	ENSP00000282516.8:n.3575-30_3575-29delinsGA
ENST00000652901.1:c.3575-30_3575-29delinsGA	ENSP00000499536.1:n.3575-30_3575-29delinsGA
ENST00000282516.12:c.3575-30_3575-29delinsGA	ENSP00000282516.8:n.3575-30_3575-29delinsGA
ENST00000448238.2:c.3575-30_3575-29delinsGA	ENSP00000406266.2:n.3575-30_3575-29delinsGA
ENST00000621733.1:c.1-63619_1-63618delinsGA	ENSP00000480694.1:n.1-63619_1-63618delinsGA
NM_015384.4:c.3575-30_3575-29delinsGA	NP_056199.2:n.3575-30_3575-29delinsGA
NM_133433.3:c.3575-30_3575-29delinsGA	NP_597677.2:n.3575-30_3575-29delinsGA
XM_005248280.2:c.3575-30_3575-29delinsGA	XP_005248337.1:n.3575-30_3575-29delinsGA
XM_005248282.3:c.2831-30_2831-29delinsGA	XP_005248339.2:n.2831-30_2831-29delinsGA
XM_006714467.2:c.3575-30_3575-29delinsGA	XP_006714530.1:n.3575-30_3575-29delinsGA
XM_006714468.1:c.3377-30_3377-29delinsGA	XP_006714531.1:n.3377-30_3377-29delinsGA
XM_011514014.1:c.3194-30_3194-29delinsGA	XP_011512316.1:n.3194-30_3194-29delinsGA
XM_011514015.1:c.3575-30_3575-29delinsGA	XP_011512317.1:n.3575-30_3575-29delinsGA
XM_005248280.3:c.3575-30_3575-29delinsGA	XP_005248337.1:n.3575-30_3575-29delinsGA
XM_005248282.5:c.2915-30_2915-29delinsGA	XP_005248339.3:n.2915-30_2915-29delinsGA
XM_006714468.2:c.3377-30_3377-29delinsGA	XP_006714531.1:n.3377-30_3377-29delinsGA
XM_017009329.1:c.3575-30_3575-29delinsGA	XP_016864818.1:n.3575-30_3575-29delinsGA
XM_017009330.2:c.1958-30_1958-29delinsGA	XP_016864819.1:n.1958-30_1958-29delinsGA
XM_017009331.1:c.1949-30_1949-29delinsGA	XP_016864820.1:n.1949-30_1949-29delinsGA
NM_133433.4:c.3575-30_3575-29delinsGA MANE Select	NP_597677.2:n.3575-30_3575-29delinsGA
NM_015384.5:c.3575-30_3575-29delinsGA	NP_056199.2:n.3575-30_3575-29delinsGA