Canonical Allele Identifier: CA2673575649

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37051944-TCTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051945_37051949del , CM000667.2:g.37051945_37051949del	GRCh38
NC_000005.9:g.37052047_37052051del , CM000667.1:g.37052047_37052051del	GRCh37
NC_000005.8:g.37087804_37087808del	NCBI36
NG_006987.1:g.180063_180067del
NG_006987.2:g.180063_180067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7062+59_7062+63del MANE Select	ENSP00000282516.8:n.7062+59_7062+63del
ENST00000652901.1:c.7062+59_7062+63del	ENSP00000499536.1:n.7062+59_7062+63del
ENST00000282516.12:c.7062+59_7062+63del	ENSP00000282516.8:n.7062+59_7062+63del
ENST00000448238.2:c.7062+59_7062+63del	ENSP00000406266.2:n.7062+59_7062+63del
ENST00000514335.1:n.944+59_944+63del
ENST00000621733.1:c.1-12633_1-12629del	ENSP00000480694.1:n.1-12633_1-12629del
NM_015384.4:c.7062+59_7062+63del	NP_056199.2:n.7062+59_7062+63del
NM_133433.3:c.7062+59_7062+63del	NP_597677.2:n.7062+59_7062+63del
XM_005248280.2:c.7062+59_7062+63del	XP_005248337.1:n.7062+59_7062+63del
XM_005248282.3:c.6318+59_6318+63del	XP_005248339.2:n.6318+59_6318+63del
XM_006714467.2:c.7062+59_7062+63del	XP_006714530.1:n.7062+59_7062+63del
XM_006714468.1:c.6864+59_6864+63del	XP_006714531.1:n.6864+59_6864+63del
XM_011514014.1:c.6681+59_6681+63del	XP_011512316.1:n.6681+59_6681+63del
XM_011514015.1:c.7062+59_7062+63del	XP_011512317.1:n.7062+59_7062+63del
XM_005248280.3:c.7062+59_7062+63del	XP_005248337.1:n.7062+59_7062+63del
XM_005248282.5:c.6402+59_6402+63del	XP_005248339.3:n.6402+59_6402+63del
XM_006714468.2:c.6864+59_6864+63del	XP_006714531.1:n.6864+59_6864+63del
XM_017009329.1:c.7062+59_7062+63del	XP_016864818.1:n.7062+59_7062+63del
XM_017009330.2:c.5445+59_5445+63del	XP_016864819.1:n.5445+59_5445+63del
XM_017009331.1:c.5436+59_5436+63del	XP_016864820.1:n.5436+59_5436+63del
NM_133433.4:c.7062+59_7062+63del MANE Select	NP_597677.2:n.7062+59_7062+63del
NM_015384.5:c.7062+59_7062+63del	NP_056199.2:n.7062+59_7062+63del