Canonical Allele Identifier: CA559295099

Gene: NIPBL

Linked Data

• dbSNP Id: rs1265331703
• gnomAD v2: 5-36995708-TACC-T
• gnomAD v4: 5-36995606-TACC-T
• MyVariant Identifiers: chr5:g.36995709_36995711del (hg19) ; chr5:g.36995607_36995609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995607_36995609del , CM000667.2:g.36995607_36995609del	GRCh38
NC_000005.9:g.36995709_36995711del , CM000667.1:g.36995709_36995711del	GRCh37
NC_000005.8:g.37031466_37031468del	NCBI36
NG_006987.1:g.123725_123727del
NG_006987.2:g.123725_123727del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-15_3122-13del MANE Select	ENSP00000282516.8:n.3122-15_3122-13del
ENST00000652901.1:c.3122-15_3122-13del	ENSP00000499536.1:n.3122-15_3122-13del
ENST00000282516.12:c.3122-15_3122-13del	ENSP00000282516.8:n.3122-15_3122-13del
ENST00000448238.2:c.3122-15_3122-13del	ENSP00000406266.2:n.3122-15_3122-13del
ENST00000503274.1:n.458_460del
ENST00000504430.5:n.2742-15_2742-13del
ENST00000621733.1:c.1-68971_1-68969del	ENSP00000480694.1:n.1-68971_1-68969del
NM_015384.4:c.3122-15_3122-13del	NP_056199.2:n.3122-15_3122-13del
NM_133433.3:c.3122-15_3122-13del	NP_597677.2:n.3122-15_3122-13del
XM_005248280.2:c.3122-15_3122-13del	XP_005248337.1:n.3122-15_3122-13del
XM_005248282.3:c.2378-15_2378-13del	XP_005248339.2:n.2378-15_2378-13del
XM_006714467.2:c.3122-15_3122-13del	XP_006714530.1:n.3122-15_3122-13del
XM_006714468.1:c.3122-15_3122-13del	XP_006714531.1:n.3122-15_3122-13del
XM_011514014.1:c.3122-5210_3122-5208del	XP_011512316.1:n.3122-5210_3122-5208del
XM_011514015.1:c.3122-15_3122-13del	XP_011512317.1:n.3122-15_3122-13del
XM_005248280.3:c.3122-15_3122-13del	XP_005248337.1:n.3122-15_3122-13del
XM_005248282.5:c.2462-15_2462-13del	XP_005248339.3:n.2462-15_2462-13del
XM_006714468.2:c.3122-15_3122-13del	XP_006714531.1:n.3122-15_3122-13del
XM_017009329.1:c.3122-15_3122-13del	XP_016864818.1:n.3122-15_3122-13del
XM_017009330.2:c.1505-15_1505-13del	XP_016864819.1:n.1505-15_1505-13del
XM_017009331.1:c.1496-15_1496-13del	XP_016864820.1:n.1496-15_1496-13del
NM_133433.4:c.3122-15_3122-13del MANE Select	NP_597677.2:n.3122-15_3122-13del
NM_015384.5:c.3122-15_3122-13del	NP_056199.2:n.3122-15_3122-13del