Canonical Allele Identifier: CA3236402

Gene: NIPBL

Linked Data

• dbSNP Id: rs535137604
• ExAC: 5:37002731 CTTTG / C
• gnomAD v2: 5-37002731-CTTTG-C
• gnomAD v3: 5-37002629-CTTTG-C
• gnomAD v4: 5-37002629-CTTTG-C
• MyVariant Identifiers: chr5:g.37002732_37002735del (hg19) ; chr5:g.37002631_37002634del (hg38) ; chr5:g.37002630_37002633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37002635_37002638del , CM000667.2:g.37002635_37002638del	GRCh38
NC_000005.9:g.37002737_37002740del , CM000667.1:g.37002737_37002740del	GRCh37
NC_000005.8:g.37038494_37038497del	NCBI36
NG_006987.1:g.130753_130756del
NG_006987.2:g.130753_130756del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3665-27_3665-24del MANE Select	ENSP00000282516.8:n.3665-27_3665-24del
ENST00000652901.1:c.3665-27_3665-24del	ENSP00000499536.1:n.3665-27_3665-24del
ENST00000282516.12:c.3665-27_3665-24del	ENSP00000282516.8:n.3665-27_3665-24del
ENST00000448238.2:c.3665-27_3665-24del	ENSP00000406266.2:n.3665-27_3665-24del
ENST00000621733.1:c.1-61943_1-61940del	ENSP00000480694.1:n.1-61943_1-61940del
NM_015384.4:c.3665-27_3665-24del	NP_056199.2:n.3665-27_3665-24del
NM_133433.3:c.3665-27_3665-24del	NP_597677.2:n.3665-27_3665-24del
XM_005248280.2:c.3665-27_3665-24del	XP_005248337.1:n.3665-27_3665-24del
XM_005248282.3:c.2921-27_2921-24del	XP_005248339.2:n.2921-27_2921-24del
XM_006714467.2:c.3665-27_3665-24del	XP_006714530.1:n.3665-27_3665-24del
XM_006714468.1:c.3467-27_3467-24del	XP_006714531.1:n.3467-27_3467-24del
XM_011514014.1:c.3284-27_3284-24del	XP_011512316.1:n.3284-27_3284-24del
XM_011514015.1:c.3665-27_3665-24del	XP_011512317.1:n.3665-27_3665-24del
XM_005248280.3:c.3665-27_3665-24del	XP_005248337.1:n.3665-27_3665-24del
XM_005248282.5:c.3005-27_3005-24del	XP_005248339.3:n.3005-27_3005-24del
XM_006714468.2:c.3467-27_3467-24del	XP_006714531.1:n.3467-27_3467-24del
XM_017009329.1:c.3665-27_3665-24del	XP_016864818.1:n.3665-27_3665-24del
XM_017009330.2:c.2048-27_2048-24del	XP_016864819.1:n.2048-27_2048-24del
XM_017009331.1:c.2039-27_2039-24del	XP_016864820.1:n.2039-27_2039-24del
NM_133433.4:c.3665-27_3665-24del MANE Select	NP_597677.2:n.3665-27_3665-24del
NM_015384.5:c.3665-27_3665-24del	NP_056199.2:n.3665-27_3665-24del