Canonical Allele Identifier: CA2232921925

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713467_74713485delinsGCCACTGGTGGAGAAGCCT , CM000678.2:g.74713467_74713485delinsGCCACTGGTGGAGAAGCCT	GRCh38
NC_000016.9:g.74747365_74747383delinsGCCACTGGTGGAGAAGCCT , CM000678.1:g.74747365_74747383delinsGCCACTGGTGGAGAAGCCT	GRCh37
NC_000016.8:g.73304866_73304884delinsGCCACTGGTGGAGAAGCCT	NCBI36
NG_017070.1:g.66347_66365delinsAGGCTTCTCCACCAGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*705_*723delinsAGGCTTCTCCACCAGTGGC MANE Select	ENSP00000219368.3:n.*705_*723delinsAGGCTTCTCCACCAGTGGC
ENST00000219368.7:c.*705_*723delinsAGGCTTCTCCACCAGTGGC	ENSP00000219368.3:n.*705_*723delinsAGGCTTCTCCACCAGTGGC
ENST00000562145.1:n.1545_1563delinsAGGCTTCTCCACCAGTGGC
NM_024306.4:c.*705_*723delinsAGGCTTCTCCACCAGTGGC	NP_077282.3:n.*705_*723delinsAGGCTTCTCCACCAGTGGC
XM_011523319.1:c.*705_*723delinsAGGCTTCTCCACCAGTGGC	XP_011521621.1:n.*705_*723delinsAGGCTTCTCCACCAGTGGC
XM_011523319.2:c.*705_*723delinsAGGCTTCTCCACCAGTGGC	XP_011521621.1:n.*705_*723delinsAGGCTTCTCCACCAGTGGC
NM_024306.5:c.*705_*723delinsAGGCTTCTCCACCAGTGGC MANE Select	NP_077282.3:n.*705_*723delinsAGGCTTCTCCACCAGTGGC