Canonical Allele Identifier: CA2695224115

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674102_2674110del , CM000679.2:g.2674102_2674110del	GRCh38
NC_000017.10:g.2577396_2577404del , CM000679.1:g.2577396_2577404del	GRCh37
NC_000017.9:g.2524146_2524154del	NCBI36
NG_009799.1:g.85474_85482del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.714_722del MANE Select	ENSP00000380378.4:p.Met239_Arg241del
ENST00000571495.2:n.1799_1807del
ENST00000674608.1:c.768_776del	ENSP00000501976.1:p.Met257_Arg259del
ENST00000674717.1:c.519_527del	ENSP00000501931.1:p.Met174_Arg176del
ENST00000675202.1:c.714_722del	ENSP00000502843.1:p.Met239_Arg241del
ENST00000675331.1:c.714_722del	ENSP00000502031.1:p.Met239_Arg241del
ENST00000675390.1:c.714_722del	ENSP00000501969.1:p.Met239_Arg241del
ENST00000675574.1:n.1786_1794del
ENST00000675621.1:c.714_722del	ENSP00000502117.1:p.Met239_Arg241del
ENST00000675764.1:c.*668_*676del	ENSP00000502242.1:n.*668_*676del
ENST00000676077.1:c.*32_*40del	ENSP00000502507.1:n.*32_*40del
ENST00000676098.1:c.714_722del	ENSP00000502735.1:p.Met239_Arg241del
ENST00000676188.1:c.714_722del	ENSP00000502577.1:p.Met239_Arg241del
ENST00000676353.1:c.519_527del	ENSP00000502737.1:p.Met174_Arg176del
ENST00000397193.7:n.522_530del
ENST00000397195.9:c.714_722del	ENSP00000380378.4:p.Met239_Arg241del
ENST00000571495.1:n.438_446del
ENST00000572915.6:n.676+6_676+14del
ENST00000574468.1:c.210_218del	ENSP00000460591.1:p.Met71_Arg73del
ENST00000574816.5:n.31-2212_31-2204del
NM_000430.3:c.714_722del	NP_000421.1:p.Met239_Arg241del
XM_011523901.1:c.768_776del	XP_011522203.1:p.Met257_Arg259del
XM_011523902.1:c.768_776del	XP_011522204.1:p.Met257_Arg259del
XM_011523903.1:c.768_776del	XP_011522205.1:p.Met257_Arg259del
XM_011523904.1:c.*32_*40del	XP_011522206.1:n.*32_*40del
XM_011523901.2:c.768_776del	XP_011522203.1:p.Met257_Arg259del
XM_011523902.3:c.768_776del	XP_011522204.1:p.Met257_Arg259del
XM_011523903.2:c.768_776del	XP_011522205.1:p.Met257_Arg259del
XM_017024701.1:c.714_722del	XP_016880190.1:p.Met239_Arg241del
XM_017024702.2:c.519_527del	XP_016880191.1:p.Met174_Arg176del
NM_000430.4:c.714_722del MANE Select	NP_000421.1:p.Met239_Arg241del