Canonical Allele Identifier: CA980774767

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs2069099908
• gnomAD v3: 17-2665834-TCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTA-T
• gnomAD v4: 17-2665834-TCAGGTGATCCACCCGCCTTAGCTTCCCAAAGTGCTGGGATTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665842_2665883del , CM000679.2:g.2665842_2665883del	GRCh38
NC_000017.10:g.2569136_2569177del , CM000679.1:g.2569136_2569177del	GRCh37
NC_000017.9:g.2515886_2515927del	NCBI36
NG_009799.1:g.77214_77255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.118-174_118-133del MANE Select	ENSP00000380378.4:n.118-174_118-133del
ENST00000674608.1:c.172-174_172-133del	ENSP00000501976.1:n.172-174_172-133del
ENST00000674717.1:c.-3-1150_-3-1109del	ENSP00000501931.1:n.-3-1150_-3-1109del
ENST00000675202.1:c.118-174_118-133del	ENSP00000502843.1:n.118-174_118-133del
ENST00000675331.1:c.118-174_118-133del	ENSP00000502031.1:n.118-174_118-133del
ENST00000675390.1:c.118-174_118-133del	ENSP00000501969.1:n.118-174_118-133del
ENST00000675430.1:n.345-174_345-133del
ENST00000675621.1:c.118-174_118-133del	ENSP00000502117.1:n.118-174_118-133del
ENST00000675764.1:c.*72-174_*72-133del	ENSP00000502242.1:n.*72-174_*72-133del
ENST00000676077.1:c.-78-174_-78-133del	ENSP00000502507.1:n.-78-174_-78-133del
ENST00000676098.1:c.118-174_118-133del	ENSP00000502735.1:n.118-174_118-133del
ENST00000676188.1:c.118-174_118-133del	ENSP00000502577.1:n.118-174_118-133del
ENST00000676201.1:n.272-174_272-133del
ENST00000676353.1:c.-78-174_-78-133del	ENSP00000502737.1:n.-78-174_-78-133del
ENST00000676456.1:n.223-174_223-133del
ENST00000397195.9:c.118-174_118-133del	ENSP00000380378.4:n.118-174_118-133del
ENST00000570400.1:c.33-174_33-133del	ENSP00000460258.1:n.33-174_33-133del
ENST00000572915.6:n.273-1150_273-1109del
ENST00000574816.5:n.31-10472_31-10431del
ENST00000575477.5:n.620-174_620-133del
ENST00000576586.5:c.118-174_118-133del	ENSP00000461087.1:n.118-174_118-133del
ENST00000609078.1:n.77-174_77-133del
NM_000430.3:c.118-174_118-133del	NP_000421.1:n.118-174_118-133del
XM_011523901.1:c.172-174_172-133del	XP_011522203.1:n.172-174_172-133del
XM_011523902.1:c.172-174_172-133del	XP_011522204.1:n.172-174_172-133del
XM_011523903.1:c.172-174_172-133del	XP_011522205.1:n.172-174_172-133del
XM_011523904.1:c.172-174_172-133del	XP_011522206.1:n.172-174_172-133del
XM_011523901.2:c.172-174_172-133del	XP_011522203.1:n.172-174_172-133del
XM_011523902.3:c.172-174_172-133del	XP_011522204.1:n.172-174_172-133del
XM_011523903.2:c.172-174_172-133del	XP_011522205.1:n.172-174_172-133del
XM_017024701.1:c.118-174_118-133del	XP_016880190.1:n.118-174_118-133del
XM_017024702.2:c.-78-174_-78-133del	XP_016880191.1:n.-78-174_-78-133del
NM_000430.4:c.118-174_118-133del MANE Select	NP_000421.1:n.118-174_118-133del