Canonical Allele Identifier: CA2565080571

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016128_37016129insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT , CM000667.2:g.37016128_37016129insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	GRCh38
NC_000005.9:g.37016230_37016231insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT , CM000667.1:g.37016230_37016231insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	GRCh37
NC_000005.8:g.37051987_37051988insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	NCBI36
NG_006987.1:g.144246_144247insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT
NG_006987.2:g.144246_144247insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT MANE Select	ENSP00000282516.8:p.Pro1579PhefsTer25
ENST00000652901.1:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	ENSP00000499536.1:p.Pro1579PhefsTer25
ENST00000282516.12:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	ENSP00000282516.8:p.Pro1579PhefsTer25
ENST00000448238.2:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	ENSP00000406266.2:p.Pro1579PhefsTer25
ENST00000621733.1:c.1-48450_1-48449insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	ENSP00000480694.1:n.1-48450_1-48449insTTTGCATGCAGGTGCATTTCGTG...
NM_015384.4:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	NP_056199.2:p.Pro1579PhefsTer25
NM_133433.3:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	NP_597677.2:p.Pro1579PhefsTer25
XM_005248280.2:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_005248337.1:p.Pro1579PhefsTer25
XM_005248282.3:c.3990_3991insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_005248339.2:p.Pro1331PhefsTer25
XM_006714467.2:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_006714530.1:p.Pro1579PhefsTer25
XM_006714468.1:c.4536_4537insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_006714531.1:p.Pro1513PhefsTer25
XM_011514014.1:c.4353_4354insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_011512316.1:p.Pro1452PhefsTer25
XM_011514015.1:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_011512317.1:p.Pro1579PhefsTer25
XM_005248280.3:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_005248337.1:p.Pro1579PhefsTer25
XM_005248282.5:c.4074_4075insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_005248339.3:p.Pro1359PhefsTer25
XM_006714468.2:c.4536_4537insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_006714531.1:p.Pro1513PhefsTer25
XM_017009329.1:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_016864818.1:p.Pro1579PhefsTer25
XM_017009330.2:c.3117_3118insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_016864819.1:p.Pro1040PhefsTer25
XM_017009331.1:c.3108_3109insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	XP_016864820.1:p.Pro1037PhefsTer25
NM_133433.4:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT MANE Select	NP_597677.2:p.Pro1579PhefsTer25
NM_015384.5:c.4734_4735insTTTGCATGCAGGTGCATTTCGTGCAAGTGGTCCTGTTGCTCTGT	NP_056199.2:p.Pro1579PhefsTer25