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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.42958288_42958289insAAGTGTAGATCCTTTTGTTATTTTTAAGA , CM000677.2:g.42958288_42958289insAAGTGTAGATCCTTTTGTTATTTTTAAGA
GRCh38
NC_000015.9:g.43250486_43250487insAAGTGTAGATCCTTTTGTTATTTTTAAGA , CM000677.1:g.43250486_43250487insAAGTGTAGATCCTTTTGTTATTTTTAAGA
GRCh37
NC_000015.8:g.41037778_41037779insAAGTGTAGATCCTTTTGTTATTTTTAAGA
NCBI36
NG_012182.1:g.152800_152801insTCTTAAAAATAACAAAAGGATCTACACTT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000290650.9:c.4758-199_4758-198insTCTTAAAAATAACAAAAGGATCTACACTT
MANE Select
ENSP00000290650.4:n.4758-199_4758-198insTCTTAAAAATAACAAAAGGAT...
ENST00000290650.8:c.4758-199_4758-198insTCTTAAAAATAACAAAAGGATCTACACTT
ENSP00000290650.4:n.4758-199_4758-198insTCTTAAAAATAACAAAAGGAT...
NM_174916.2:c.4758-199_4758-198insTCTTAAAAATAACAAAAGGATCTACACTT
NP_777576.1:n.4758-199_4758-198insTCTTAAAAATAACAAAAGGATCTACAC...
NM_174916.3:c.4758-199_4758-198insTCTTAAAAATAACAAAAGGATCTACACTT
MANE Select
NP_777576.1:n.4758-199_4758-198insTCTTAAAAATAACAAAAGGATCTACAC...