Canonical Allele Identifier: CA1539599721

Gene: NIPBL

Linked Data

• dbSNP Id: rs1746039165
• gnomAD v4: 5-36995502-TTAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995507_36995511del , CM000667.2:g.36995507_36995511del	GRCh38
NC_000005.9:g.36995609_36995613del , CM000667.1:g.36995609_36995613del	GRCh37
NC_000005.8:g.37031366_37031370del	NCBI36
NG_006987.1:g.123625_123629del
NG_006987.2:g.123625_123629del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-115_3122-111del MANE Select	ENSP00000282516.8:n.3122-115_3122-111del
ENST00000652901.1:c.3122-115_3122-111del	ENSP00000499536.1:n.3122-115_3122-111del
ENST00000282516.12:c.3122-115_3122-111del	ENSP00000282516.8:n.3122-115_3122-111del
ENST00000448238.2:c.3122-115_3122-111del	ENSP00000406266.2:n.3122-115_3122-111del
ENST00000503274.1:n.358_362del
ENST00000504430.5:n.2742-115_2742-111del
ENST00000621733.1:c.1-69071_1-69067del	ENSP00000480694.1:n.1-69071_1-69067del
NM_015384.4:c.3122-115_3122-111del	NP_056199.2:n.3122-115_3122-111del
NM_133433.3:c.3122-115_3122-111del	NP_597677.2:n.3122-115_3122-111del
XM_005248280.2:c.3122-115_3122-111del	XP_005248337.1:n.3122-115_3122-111del
XM_005248282.3:c.2378-115_2378-111del	XP_005248339.2:n.2378-115_2378-111del
XM_006714467.2:c.3122-115_3122-111del	XP_006714530.1:n.3122-115_3122-111del
XM_006714468.1:c.3122-115_3122-111del	XP_006714531.1:n.3122-115_3122-111del
XM_011514014.1:c.3122-5310_3122-5306del	XP_011512316.1:n.3122-5310_3122-5306del
XM_011514015.1:c.3122-115_3122-111del	XP_011512317.1:n.3122-115_3122-111del
XM_005248280.3:c.3122-115_3122-111del	XP_005248337.1:n.3122-115_3122-111del
XM_005248282.5:c.2462-115_2462-111del	XP_005248339.3:n.2462-115_2462-111del
XM_006714468.2:c.3122-115_3122-111del	XP_006714531.1:n.3122-115_3122-111del
XM_017009329.1:c.3122-115_3122-111del	XP_016864818.1:n.3122-115_3122-111del
XM_017009330.2:c.1505-115_1505-111del	XP_016864819.1:n.1505-115_1505-111del
XM_017009331.1:c.1496-115_1496-111del	XP_016864820.1:n.1496-115_1496-111del
NM_133433.4:c.3122-115_3122-111del MANE Select	NP_597677.2:n.3122-115_3122-111del
NM_015384.5:c.3122-115_3122-111del	NP_056199.2:n.3122-115_3122-111del