Canonical Allele Identifier: CA3003717734

Gene: SMC3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601972_110601973insTTCTTCAATA , CM000672.2:g.110601972_110601973insTTCTTCAATA	GRCh38
NC_000010.10:g.112361730_112361731insTTCTTCAATA , CM000672.1:g.112361730_112361731insTTCTTCAATA	GRCh37
NC_000010.9:g.112351720_112351721insTTCTTCAATA	NCBI36
NG_012217.1:g.39282_39283insTTCTTCAATA , LRG_774:g.39282_39283insTTCTTCAATA

Transcript Alleles

HGVS	Amino-acid Change
NM_005445.4:c.2899_2900insTTCTTCAATA MANE Select	NP_005436.1:p.Arg967LeufsTer4
ENST00000361804.5:c.2899_2900insTTCTTCAATA MANE Select	ENSP00000354720.5:p.Arg967LeufsTer4
NM_005445.3:c.2899_2900insTTCTTCAATA , LRG_774t1:c.2899_2900insTTCTTCAATA	NP_005436.1:p.Arg967LeufsTer4
ENST00000361804.4:c.2899_2900insTTCTTCAATA	ENSP00000354720.4:p.Arg967LeufsTer4
ENST00000684988.1:n.5132_5133insTTCTTCAATA
ENST00000685743.1:n.2607_2608insTTCTTCAATA
ENST00000686057.1:n.1250_1251insTTCTTCAATA
ENST00000689321.1:n.1862_1863insTTCTTCAATA
ENST00000689986.1:n.688_689insTTCTTCAATA