Canonical Allele Identifier: CA810296173

Gene: NIPBL

Linked Data

• dbSNP Id: rs1301141584
• gnomAD v3: 5-36995478-TAA-T
• gnomAD v4: 5-36995478-TAA-T
• MyVariant Identifiers: chr5:g.36995581_36995582del (hg19) ; chr5:g.36995479_36995480del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995479_36995480del , CM000667.2:g.36995479_36995480del	GRCh38
NC_000005.9:g.36995581_36995582del , CM000667.1:g.36995581_36995582del	GRCh37
NC_000005.8:g.37031338_37031339del	NCBI36
NG_006987.1:g.123597_123598del
NG_006987.2:g.123597_123598del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-143_3122-142del MANE Select	ENSP00000282516.8:n.3122-143_3122-142del
ENST00000652901.1:c.3122-143_3122-142del	ENSP00000499536.1:n.3122-143_3122-142del
ENST00000282516.12:c.3122-143_3122-142del	ENSP00000282516.8:n.3122-143_3122-142del
ENST00000448238.2:c.3122-143_3122-142del	ENSP00000406266.2:n.3122-143_3122-142del
ENST00000503274.1:n.330_331del
ENST00000504430.5:n.2742-143_2742-142del
ENST00000621733.1:c.1-69099_1-69098del	ENSP00000480694.1:n.1-69099_1-69098del
NM_015384.4:c.3122-143_3122-142del	NP_056199.2:n.3122-143_3122-142del
NM_133433.3:c.3122-143_3122-142del	NP_597677.2:n.3122-143_3122-142del
XM_005248280.2:c.3122-143_3122-142del	XP_005248337.1:n.3122-143_3122-142del
XM_005248282.3:c.2378-143_2378-142del	XP_005248339.2:n.2378-143_2378-142del
XM_006714467.2:c.3122-143_3122-142del	XP_006714530.1:n.3122-143_3122-142del
XM_006714468.1:c.3122-143_3122-142del	XP_006714531.1:n.3122-143_3122-142del
XM_011514014.1:c.3122-5338_3122-5337del	XP_011512316.1:n.3122-5338_3122-5337del
XM_011514015.1:c.3122-143_3122-142del	XP_011512317.1:n.3122-143_3122-142del
XM_005248280.3:c.3122-143_3122-142del	XP_005248337.1:n.3122-143_3122-142del
XM_005248282.5:c.2462-143_2462-142del	XP_005248339.3:n.2462-143_2462-142del
XM_006714468.2:c.3122-143_3122-142del	XP_006714531.1:n.3122-143_3122-142del
XM_017009329.1:c.3122-143_3122-142del	XP_016864818.1:n.3122-143_3122-142del
XM_017009330.2:c.1505-143_1505-142del	XP_016864819.1:n.1505-143_1505-142del
XM_017009331.1:c.1496-143_1496-142del	XP_016864820.1:n.1496-143_1496-142del
NM_133433.4:c.3122-143_3122-142del MANE Select	NP_597677.2:n.3122-143_3122-142del
NM_015384.5:c.3122-143_3122-142del	NP_056199.2:n.3122-143_3122-142del