Canonical Allele Identifier: CA2673553327

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37020595-TTATGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020597_37020602del , CM000667.2:g.37020597_37020602del	GRCh38
NC_000005.9:g.37020699_37020704del , CM000667.1:g.37020699_37020704del	GRCh37
NC_000005.8:g.37056456_37056461del	NCBI36
NG_006987.1:g.148715_148720del
NG_006987.2:g.148715_148720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5149_5154del MANE Select	ENSP00000282516.8:p.Met1717_His1718del
ENST00000652901.1:c.5149_5154del	ENSP00000499536.1:p.Met1717_His1718del
ENST00000282516.12:c.5149_5154del	ENSP00000282516.8:p.Met1717_His1718del
ENST00000448238.2:c.5149_5154del	ENSP00000406266.2:p.Met1717_His1718del
ENST00000621733.1:c.1-43981_1-43976del	ENSP00000480694.1:n.1-43981_1-43976del
NM_015384.4:c.5149_5154del	NP_056199.2:p.Met1717_His1718del
NM_133433.3:c.5149_5154del	NP_597677.2:p.Met1717_His1718del
XM_005248280.2:c.5149_5154del	XP_005248337.1:p.Met1717_His1718del
XM_005248282.3:c.4405_4410del	XP_005248339.2:p.Met1469_His1470del
XM_006714467.2:c.5149_5154del	XP_006714530.1:p.Met1717_His1718del
XM_006714468.1:c.4951_4956del	XP_006714531.1:p.Met1651_His1652del
XM_011514014.1:c.4768_4773del	XP_011512316.1:p.Met1590_His1591del
XM_011514015.1:c.5149_5154del	XP_011512317.1:p.Met1717_His1718del
XM_005248280.3:c.5149_5154del	XP_005248337.1:p.Met1717_His1718del
XM_005248282.5:c.4489_4494del	XP_005248339.3:p.Met1497_His1498del
XM_006714468.2:c.4951_4956del	XP_006714531.1:p.Met1651_His1652del
XM_017009329.1:c.5149_5154del	XP_016864818.1:p.Met1717_His1718del
XM_017009330.2:c.3532_3537del	XP_016864819.1:p.Met1178_His1179del
XM_017009331.1:c.3523_3528del	XP_016864820.1:p.Met1175_His1176del
NM_133433.4:c.5149_5154del MANE Select	NP_597677.2:p.Met1717_His1718del
NM_015384.5:c.5149_5154del	NP_056199.2:p.Met1717_His1718del