Canonical Allele Identifier: CA2232921858

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713369_74713384delinsGGGGAGGTGAGGCACT , CM000678.2:g.74713369_74713384delinsGGGGAGGTGAGGCACT	GRCh38
NC_000016.9:g.74747267_74747282delinsGGGGAGGTGAGGCACT , CM000678.1:g.74747267_74747282delinsGGGGAGGTGAGGCACT	GRCh37
NC_000016.8:g.73304768_73304783delinsGGGGAGGTGAGGCACT	NCBI36
NG_017070.1:g.66448_66463delinsAGTGCCTCACCTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*806_*821delinsAGTGCCTCACCTCCCC MANE Select	ENSP00000219368.3:n.*806_*821delinsAGTGCCTCACCTCCCC
ENST00000219368.7:c.*806_*821delinsAGTGCCTCACCTCCCC	ENSP00000219368.3:n.*806_*821delinsAGTGCCTCACCTCCCC
ENST00000562145.1:n.1646_1661delinsAGTGCCTCACCTCCCC
NM_024306.4:c.*806_*821delinsAGTGCCTCACCTCCCC	NP_077282.3:n.*806_*821delinsAGTGCCTCACCTCCCC
XM_011523319.1:c.*806_*821delinsAGTGCCTCACCTCCCC	XP_011521621.1:n.*806_*821delinsAGTGCCTCACCTCCCC
XM_011523319.2:c.*806_*821delinsAGTGCCTCACCTCCCC	XP_011521621.1:n.*806_*821delinsAGTGCCTCACCTCCCC
NM_024306.5:c.*806_*821delinsAGTGCCTCACCTCCCC MANE Select	NP_077282.3:n.*806_*821delinsAGTGCCTCACCTCCCC