Canonical Allele Identifier: CA2673576399

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37063749-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37063749A>G , CM000667.2:g.37063749A>G	GRCh38
NC_000005.9:g.37063851A>G , CM000667.1:g.37063851A>G	GRCh37
NC_000005.8:g.37099608A>G	NCBI36
NG_006987.1:g.191867A>G
NG_006987.2:g.191867A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7861-41A>G MANE Select	ENSP00000282516.8:n.7861-41A>G
ENST00000652901.1:c.7714-41A>G	ENSP00000499536.1:n.7714-41A>G
ENST00000282516.12:c.7861-41A>G	ENSP00000282516.8:n.7861-41A>G
ENST00000448238.2:c.7861-41A>G	ENSP00000406266.2:n.7861-41A>G
ENST00000513819.1:c.264-41A>G	ENSP00000421504.1:n.264-41A>G
ENST00000514335.1:n.1743-41A>G
ENST00000621733.1:c.1-829A>G	ENSP00000480694.1:n.1-829A>G
NM_015384.4:c.7861-41A>G	NP_056199.2:n.7861-41A>G
NM_133433.3:c.7861-41A>G	NP_597677.2:n.7861-41A>G
XM_005248280.2:c.7861-41A>G	XP_005248337.1:n.7861-41A>G
XM_005248282.3:c.7117-41A>G	XP_005248339.2:n.7117-41A>G
XM_006714467.2:c.7714-41A>G	XP_006714530.1:n.7714-41A>G
XM_006714468.1:c.7663-41A>G	XP_006714531.1:n.7663-41A>G
XM_011514014.1:c.7480-41A>G	XP_011512316.1:n.7480-41A>G
XM_005248280.3:c.7861-41A>G	XP_005248337.1:n.7861-41A>G
XM_005248282.5:c.7201-41A>G	XP_005248339.3:n.7201-41A>G
XM_006714468.2:c.7663-41A>G	XP_006714531.1:n.7663-41A>G
XM_017009329.1:c.7714-41A>G	XP_016864818.1:n.7714-41A>G
XM_017009330.2:c.6244-41A>G	XP_016864819.1:n.6244-41A>G
XM_017009331.1:c.6235-41A>G	XP_016864820.1:n.6235-41A>G
NM_133433.4:c.7861-41A>G MANE Select	NP_597677.2:n.7861-41A>G
NM_015384.5:c.7861-41A>G	NP_056199.2:n.7861-41A>G