Canonical Allele Identifier: CA7821767

Gene: FAHD1 MEIOB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1839400_1839401del , CM000678.2:g.1839400_1839401del	GRCh38
NC_000016.9:g.1889401_1889402del , CM000678.1:g.1889401_1889402del	GRCh37
NC_000016.8:g.1829402_1829403del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001163560.3:c.1072_1073del (MEIOB) MANE Select	NP_001157032.1:p.Met358ValfsTer12
ENST00000325962.9:c.1072_1073del (MEIOB) MANE Select	ENSP00000314484.3:p.Met358ValfsTer12
NM_001018104.2:c.*147_*148del (FAHD1)	NP_001018114.1:n.*147_*148del
NM_001018104.3:c.*147_*148del (FAHD1)	NP_001018114.2:n.*147_*148del
NM_001142398.1:c.*94_*95del (FAHD1)	NP_001135870.1:n.*94_*95del
NM_001142398.2:c.*94_*95del (FAHD1)	NP_001135870.2:n.*94_*95del
NM_001163560.2:c.1072_1073del (MEIOB)	NP_001157032.1:p.Met358ValfsTer12
NM_152764.2:c.1072_1073del (MEIOB)	NP_689977.2:p.Met358ValfsTer12
NM_152764.3:c.1072_1073del (MEIOB)	NP_689977.2:p.Met358ValfsTer12
ENST00000325962.7:c.1072_1073del (MEIOB)	ENSP00000314484.3:p.Met358ValfsTer12
ENST00000382666.5:c.*147_*148del (FAHD1)	ENSP00000372112.4:n.*147_*148del
ENST00000382666.6:c.*147_*148del (FAHD1)	ENSP00000372112.5:n.*147_*148del
ENST00000382668.7:c.*94_*95del (FAHD1)	ENSP00000372114.4:n.*94_*95del
ENST00000382668.8:c.*94_*95del (FAHD1)	ENSP00000372114.5:n.*94_*95del
ENST00000397344.7:c.1072_1073del (MEIOB)	ENSP00000380504.3:p.Met358ValfsTer12
ENST00000412554.6:c.1072_1073del (MEIOB)	ENSP00000390778.2:p.Met358ValfsTer12
ENST00000470044.5:c.451_452del (MEIOB)	ENSP00000457416.1:p.Met151ValfsTer12
ENST00000490154.1:n.126_127del (MEIOB)