Canonical Allele Identifier: CA2635320269

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2665941-TTAAAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665943_2665948del , CM000679.2:g.2665943_2665948del	GRCh38
NC_000017.10:g.2569237_2569242del , CM000679.1:g.2569237_2569242del	GRCh37
NC_000017.9:g.2515987_2515992del	NCBI36
NG_009799.1:g.77315_77320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.118-73_118-68del MANE Select	ENSP00000380378.4:n.118-73_118-68del
ENST00000674608.1:c.172-73_172-68del	ENSP00000501976.1:n.172-73_172-68del
ENST00000674717.1:c.-3-1049_-3-1044del	ENSP00000501931.1:n.-3-1049_-3-1044del
ENST00000675202.1:c.118-73_118-68del	ENSP00000502843.1:n.118-73_118-68del
ENST00000675331.1:c.118-73_118-68del	ENSP00000502031.1:n.118-73_118-68del
ENST00000675390.1:c.118-73_118-68del	ENSP00000501969.1:n.118-73_118-68del
ENST00000675430.1:n.345-73_345-68del
ENST00000675621.1:c.118-73_118-68del	ENSP00000502117.1:n.118-73_118-68del
ENST00000675764.1:c.*72-73_*72-68del	ENSP00000502242.1:n.*72-73_*72-68del
ENST00000676077.1:c.-78-73_-78-68del	ENSP00000502507.1:n.-78-73_-78-68del
ENST00000676098.1:c.118-73_118-68del	ENSP00000502735.1:n.118-73_118-68del
ENST00000676188.1:c.118-73_118-68del	ENSP00000502577.1:n.118-73_118-68del
ENST00000676201.1:n.272-73_272-68del
ENST00000676353.1:c.-78-73_-78-68del	ENSP00000502737.1:n.-78-73_-78-68del
ENST00000676456.1:n.223-73_223-68del
ENST00000397195.9:c.118-73_118-68del	ENSP00000380378.4:n.118-73_118-68del
ENST00000570400.1:c.33-73_33-68del	ENSP00000460258.1:n.33-73_33-68del
ENST00000572915.6:n.273-1049_273-1044del
ENST00000574816.5:n.31-10371_31-10366del
ENST00000575477.5:n.620-73_620-68del
ENST00000576586.5:c.118-73_118-68del	ENSP00000461087.1:n.118-73_118-68del
ENST00000609078.1:n.77-73_77-68del
NM_000430.3:c.118-73_118-68del	NP_000421.1:n.118-73_118-68del
XM_011523901.1:c.172-73_172-68del	XP_011522203.1:n.172-73_172-68del
XM_011523902.1:c.172-73_172-68del	XP_011522204.1:n.172-73_172-68del
XM_011523903.1:c.172-73_172-68del	XP_011522205.1:n.172-73_172-68del
XM_011523904.1:c.172-73_172-68del	XP_011522206.1:n.172-73_172-68del
XM_011523901.2:c.172-73_172-68del	XP_011522203.1:n.172-73_172-68del
XM_011523902.3:c.172-73_172-68del	XP_011522204.1:n.172-73_172-68del
XM_011523903.2:c.172-73_172-68del	XP_011522205.1:n.172-73_172-68del
XM_017024701.1:c.118-73_118-68del	XP_016880190.1:n.118-73_118-68del
XM_017024702.2:c.-78-73_-78-68del	XP_016880191.1:n.-78-73_-78-68del
NM_000430.4:c.118-73_118-68del MANE Select	NP_000421.1:n.118-73_118-68del