Canonical Allele Identifier: CA3236173

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2898807
• ClinVar RCV Id: RCV003603604
• dbSNP Id: rs769307619
• ExAC: 5:36985737 GATA / G
• gnomAD v2: 5-36985737-GATA-G
• gnomAD v3: 5-36985635-GATA-G
• gnomAD v4: 5-36985635-GATA-G
• MyVariant Identifiers: chr5:g.36985738_36985740del (hg19) ; chr5:g.36985637_36985639del (hg38) ; chr5:g.36985636_36985638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985640_36985642del , CM000667.2:g.36985640_36985642del	GRCh38
NC_000005.9:g.36985742_36985744del , CM000667.1:g.36985742_36985744del	GRCh37
NC_000005.8:g.37021499_37021501del	NCBI36
NG_006987.1:g.113758_113760del
NG_006987.2:g.113758_113760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2460_2462del MANE Select	ENSP00000282516.8:p.Asn820del
ENST00000652901.1:c.2460_2462del	ENSP00000499536.1:p.Asn820del
ENST00000282516.12:c.2460_2462del	ENSP00000282516.8:p.Asn820del
ENST00000448238.2:c.2460_2462del	ENSP00000406266.2:p.Asn820del
ENST00000504430.5:n.2080_2082del
ENST00000621733.1:c.1-78938_1-78936del	ENSP00000480694.1:n.1-78938_1-78936del
NM_015384.4:c.2460_2462del	NP_056199.2:p.Asn820del
NM_133433.3:c.2460_2462del	NP_597677.2:p.Asn820del
XM_005248280.2:c.2460_2462del	XP_005248337.1:p.Asn820del
XM_005248282.3:c.1716_1718del	XP_005248339.2:p.Asn572del
XM_006714467.2:c.2460_2462del	XP_006714530.1:p.Asn820del
XM_006714468.1:c.2460_2462del	XP_006714531.1:p.Asn820del
XM_011514014.1:c.2460_2462del	XP_011512316.1:p.Asn820del
XM_011514015.1:c.2460_2462del	XP_011512317.1:p.Asn820del
XM_005248280.3:c.2460_2462del	XP_005248337.1:p.Asn820del
XM_005248282.5:c.1800_1802del	XP_005248339.3:p.Asn600del
XM_006714468.2:c.2460_2462del	XP_006714531.1:p.Asn820del
XM_017009329.1:c.2460_2462del	XP_016864818.1:p.Asn820del
XM_017009330.2:c.843_845del	XP_016864819.1:p.Asn281del
XM_017009331.1:c.1495+9238_1495+9240del	XP_016864820.1:n.1495+9238_1495+9240del
NM_133433.4:c.2460_2462del MANE Select	NP_597677.2:p.Asn820del
NM_015384.5:c.2460_2462del	NP_056199.2:p.Asn820del