Canonical Allele Identifier: CA3236406

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1192802
• ClinVar RCV Id: RCV001554986
• dbSNP Id: rs772674746
• ExAC: 5:37002764 GTGA / G
• gnomAD v2: 5-37002764-GTGA-G
• gnomAD v3: 5-37002662-GTGA-G
• gnomAD v4: 5-37002662-GTGA-G
• MyVariant Identifiers: chr5:g.37002765_37002767del (hg19) ; chr5:g.37002664_37002666del (hg38) ; chr5:g.37002663_37002665del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37002672_37002674del , CM000667.2:g.37002672_37002674del	GRCh38
NC_000005.9:g.37002774_37002776del , CM000667.1:g.37002774_37002776del	GRCh37
NC_000005.8:g.37038531_37038533del	NCBI36
NG_006987.1:g.130790_130792del
NG_006987.2:g.130790_130792del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3675_3677del MANE Select	ENSP00000282516.8:p.Asp1225del
ENST00000652901.1:c.3675_3677del	ENSP00000499536.1:p.Asp1225del
ENST00000282516.12:c.3675_3677del	ENSP00000282516.8:p.Asp1225del
ENST00000448238.2:c.3675_3677del	ENSP00000406266.2:p.Asp1225del
ENST00000621733.1:c.1-61906_1-61904del	ENSP00000480694.1:n.1-61906_1-61904del
NM_015384.4:c.3675_3677del	NP_056199.2:p.Asp1225del
NM_133433.3:c.3675_3677del	NP_597677.2:p.Asp1225del
XM_005248280.2:c.3675_3677del	XP_005248337.1:p.Asp1225del
XM_005248282.3:c.2931_2933del	XP_005248339.2:p.Asp977del
XM_006714467.2:c.3675_3677del	XP_006714530.1:p.Asp1225del
XM_006714468.1:c.3477_3479del	XP_006714531.1:p.Asp1159del
XM_011514014.1:c.3294_3296del	XP_011512316.1:p.Asp1098del
XM_011514015.1:c.3675_3677del	XP_011512317.1:p.Asp1225del
XM_005248280.3:c.3675_3677del	XP_005248337.1:p.Asp1225del
XM_005248282.5:c.3015_3017del	XP_005248339.3:p.Asp1005del
XM_006714468.2:c.3477_3479del	XP_006714531.1:p.Asp1159del
XM_017009329.1:c.3675_3677del	XP_016864818.1:p.Asp1225del
XM_017009330.2:c.2058_2060del	XP_016864819.1:p.Asp686del
XM_017009331.1:c.2049_2051del	XP_016864820.1:p.Asp683del
NM_133433.4:c.3675_3677del MANE Select	NP_597677.2:p.Asp1225del
NM_015384.5:c.3675_3677del	NP_056199.2:p.Asp1225del