Canonical Allele Identifier: CA2673574873

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37000941-TGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000942_37000944del , CM000667.2:g.37000942_37000944del	GRCh38
NC_000005.9:g.37001044_37001046del , CM000667.1:g.37001044_37001046del	GRCh37
NC_000005.8:g.37036801_37036803del	NCBI36
NG_006987.1:g.129060_129062del
NG_006987.2:g.129060_129062del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3575-47_3575-45del MANE Select	ENSP00000282516.8:n.3575-47_3575-45del
ENST00000652901.1:c.3575-47_3575-45del	ENSP00000499536.1:n.3575-47_3575-45del
ENST00000282516.12:c.3575-47_3575-45del	ENSP00000282516.8:n.3575-47_3575-45del
ENST00000448238.2:c.3575-47_3575-45del	ENSP00000406266.2:n.3575-47_3575-45del
ENST00000621733.1:c.1-63636_1-63634del	ENSP00000480694.1:n.1-63636_1-63634del
NM_015384.4:c.3575-47_3575-45del	NP_056199.2:n.3575-47_3575-45del
NM_133433.3:c.3575-47_3575-45del	NP_597677.2:n.3575-47_3575-45del
XM_005248280.2:c.3575-47_3575-45del	XP_005248337.1:n.3575-47_3575-45del
XM_005248282.3:c.2831-47_2831-45del	XP_005248339.2:n.2831-47_2831-45del
XM_006714467.2:c.3575-47_3575-45del	XP_006714530.1:n.3575-47_3575-45del
XM_006714468.1:c.3377-47_3377-45del	XP_006714531.1:n.3377-47_3377-45del
XM_011514014.1:c.3194-47_3194-45del	XP_011512316.1:n.3194-47_3194-45del
XM_011514015.1:c.3575-47_3575-45del	XP_011512317.1:n.3575-47_3575-45del
XM_005248280.3:c.3575-47_3575-45del	XP_005248337.1:n.3575-47_3575-45del
XM_005248282.5:c.2915-47_2915-45del	XP_005248339.3:n.2915-47_2915-45del
XM_006714468.2:c.3377-47_3377-45del	XP_006714531.1:n.3377-47_3377-45del
XM_017009329.1:c.3575-47_3575-45del	XP_016864818.1:n.3575-47_3575-45del
XM_017009330.2:c.1958-47_1958-45del	XP_016864819.1:n.1958-47_1958-45del
XM_017009331.1:c.1949-47_1949-45del	XP_016864820.1:n.1949-47_1949-45del
NM_133433.4:c.3575-47_3575-45del MANE Select	NP_597677.2:n.3575-47_3575-45del
NM_015384.5:c.3575-47_3575-45del	NP_056199.2:n.3575-47_3575-45del