Canonical Allele Identifier: CA559295094

Gene: NIPBL

Linked Data

• dbSNP Id: rs1554019650
• gnomAD v2: 5-36995702-TAAA-T
• gnomAD v4: 5-36995600-TAAA-T
• MyVariant Identifiers: chr5:g.36995703_36995705del (hg19) ; chr5:g.36995601_36995603del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995601_36995603del , CM000667.2:g.36995601_36995603del	GRCh38
NC_000005.9:g.36995703_36995705del , CM000667.1:g.36995703_36995705del	GRCh37
NC_000005.8:g.37031460_37031462del	NCBI36
NG_006987.1:g.123719_123721del
NG_006987.2:g.123719_123721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-21_3122-19del MANE Select	ENSP00000282516.8:n.3122-21_3122-19del
ENST00000652901.1:c.3122-21_3122-19del	ENSP00000499536.1:n.3122-21_3122-19del
ENST00000282516.12:c.3122-21_3122-19del	ENSP00000282516.8:n.3122-21_3122-19del
ENST00000448238.2:c.3122-21_3122-19del	ENSP00000406266.2:n.3122-21_3122-19del
ENST00000503274.1:n.452_454del
ENST00000504430.5:n.2742-21_2742-19del
ENST00000621733.1:c.1-68977_1-68975del	ENSP00000480694.1:n.1-68977_1-68975del
NM_015384.4:c.3122-21_3122-19del	NP_056199.2:n.3122-21_3122-19del
NM_133433.3:c.3122-21_3122-19del	NP_597677.2:n.3122-21_3122-19del
XM_005248280.2:c.3122-21_3122-19del	XP_005248337.1:n.3122-21_3122-19del
XM_005248282.3:c.2378-21_2378-19del	XP_005248339.2:n.2378-21_2378-19del
XM_006714467.2:c.3122-21_3122-19del	XP_006714530.1:n.3122-21_3122-19del
XM_006714468.1:c.3122-21_3122-19del	XP_006714531.1:n.3122-21_3122-19del
XM_011514014.1:c.3122-5216_3122-5214del	XP_011512316.1:n.3122-5216_3122-5214del
XM_011514015.1:c.3122-21_3122-19del	XP_011512317.1:n.3122-21_3122-19del
XM_005248280.3:c.3122-21_3122-19del	XP_005248337.1:n.3122-21_3122-19del
XM_005248282.5:c.2462-21_2462-19del	XP_005248339.3:n.2462-21_2462-19del
XM_006714468.2:c.3122-21_3122-19del	XP_006714531.1:n.3122-21_3122-19del
XM_017009329.1:c.3122-21_3122-19del	XP_016864818.1:n.3122-21_3122-19del
XM_017009330.2:c.1505-21_1505-19del	XP_016864819.1:n.1505-21_1505-19del
XM_017009331.1:c.1496-21_1496-19del	XP_016864820.1:n.1496-21_1496-19del
NM_133433.4:c.3122-21_3122-19del MANE Select	NP_597677.2:n.3122-21_3122-19del
NM_015384.5:c.3122-21_3122-19del	NP_056199.2:n.3122-21_3122-19del