Canonical Allele Identifier: CA3237094

Gene: NIPBL

Linked Data

• dbSNP Id: rs780555426
• ExAC: 5:37051825 CTAAATAG / C
• gnomAD v2: 5-37051825-CTAAATAG-C
• gnomAD v3: 5-37051723-CTAAATAG-C
• gnomAD v4: 5-37051723-CTAAATAG-C
• MyVariant Identifiers: chr5:g.37051826_37051832del (hg19) ; chr5:g.37051724_37051730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051724_37051730del , CM000667.2:g.37051724_37051730del	GRCh38
NC_000005.9:g.37051826_37051832del , CM000667.1:g.37051826_37051832del	GRCh37
NC_000005.8:g.37087583_37087589del	NCBI36
NG_006987.1:g.179842_179848del
NG_006987.2:g.179842_179848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6955-55_6955-49del MANE Select	ENSP00000282516.8:n.6955-55_6955-49del
ENST00000652901.1:c.6955-55_6955-49del	ENSP00000499536.1:n.6955-55_6955-49del
ENST00000282516.12:c.6955-55_6955-49del	ENSP00000282516.8:n.6955-55_6955-49del
ENST00000448238.2:c.6955-55_6955-49del	ENSP00000406266.2:n.6955-55_6955-49del
ENST00000514335.1:n.782_788del
ENST00000621733.1:c.1-12854_1-12848del	ENSP00000480694.1:n.1-12854_1-12848del
NM_015384.4:c.6955-55_6955-49del	NP_056199.2:n.6955-55_6955-49del
NM_133433.3:c.6955-55_6955-49del	NP_597677.2:n.6955-55_6955-49del
XM_005248280.2:c.6955-55_6955-49del	XP_005248337.1:n.6955-55_6955-49del
XM_005248282.3:c.6211-55_6211-49del	XP_005248339.2:n.6211-55_6211-49del
XM_006714467.2:c.6955-55_6955-49del	XP_006714530.1:n.6955-55_6955-49del
XM_006714468.1:c.6757-55_6757-49del	XP_006714531.1:n.6757-55_6757-49del
XM_011514014.1:c.6574-55_6574-49del	XP_011512316.1:n.6574-55_6574-49del
XM_011514015.1:c.6955-55_6955-49del	XP_011512317.1:n.6955-55_6955-49del
XM_005248280.3:c.6955-55_6955-49del	XP_005248337.1:n.6955-55_6955-49del
XM_005248282.5:c.6295-55_6295-49del	XP_005248339.3:n.6295-55_6295-49del
XM_006714468.2:c.6757-55_6757-49del	XP_006714531.1:n.6757-55_6757-49del
XM_017009329.1:c.6955-55_6955-49del	XP_016864818.1:n.6955-55_6955-49del
XM_017009330.2:c.5338-55_5338-49del	XP_016864819.1:n.5338-55_5338-49del
XM_017009331.1:c.5329-55_5329-49del	XP_016864820.1:n.5329-55_5329-49del
NM_133433.4:c.6955-55_6955-49del MANE Select	NP_597677.2:n.6955-55_6955-49del
NM_015384.5:c.6955-55_6955-49del	NP_056199.2:n.6955-55_6955-49del