Canonical Allele Identifier: CA1570861676
Gene: EFNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.107646821_107646852delinsTAAAGCTTATTTAAAAAGCTTCATTGTATGGG , CM000667.2:g.107646821_107646852delinsTAAAGCTTATTTAAAAAGCTTCATTGTATGGG GRCh38
NC_000005.9:g.106982522_106982553delinsTAAAGCTTATTTAAAAAGCTTCATTGTATGGG , CM000667.1:g.106982522_106982553delinsTAAAGCTTATTTAAAAAGCTTCATTGTATGGG GRCh37
NC_000005.8:g.107010421_107010452delinsTAAAGCTTATTTAAAAAGCTTCATTGTATGGG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000333274.11:c.125+23637_125+23668delinsCCCATACAATGAAGCTTTTTAAATAAGCTTTA MANE Select ENSP00000328777.6:n.125+23637_125+23668de...
ENST00000333274.10:c.125+23637_125+23668delinsCCCATACAATGAAGCTTTTTAAATAAGCTTTA ENSP00000328777.6:n.125+23637_125+23668de...
ENST00000504941.1:n.397+23637_397+23668delinsCCCATACAATGAAGCTTTTTAAATAAGCTTTA
ENST00000509503.1:c.125+23637_125+23668delinsCCCATACAATGAAGCTTTTTAAATAAGCTTTA ENSP00000426989.1:n.125+23637_125+23668de...
NM_001962.2:c.125+23637_125+23668delinsCCCATACAATGAAGCTTTTTAAATAAGCTTTA NP_001953.1:n.125+23637_125+23668delinsCC...
XM_006714565.1:c.125+23637_125+23668delinsCCCATACAATGAAGCTTTTTAAATAAGCTTTA XP_006714628.1:n.125+23637_125+23668delin...
XM_006714565.3:c.125+23637_125+23668delinsCCCATACAATGAAGCTTTTTAAATAAGCTTTA XP_006714628.1:n.125+23637_125+23668delin...
NM_001962.3:c.125+23637_125+23668delinsCCCATACAATGAAGCTTTTTAAATAAGCTTTA MANE Select NP_001953.1:n.125+23637_125+23668delinsCC...