Canonical Allele Identifier: CA727484198

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1305878657
• gnomAD v3: 17-2676678-ATATCT-A
• gnomAD v4: 17-2676678-ATATCT-A
• MyVariant Identifiers: chr17:g.2579973_2579977del (hg19) ; chr17:g.2676679_2676683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676681_2676685del , CM000679.2:g.2676681_2676685del	GRCh38
NC_000017.10:g.2579975_2579979del , CM000679.1:g.2579975_2579979del	GRCh37
NC_000017.9:g.2526725_2526729del	NCBI36
NG_009799.1:g.88053_88057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.1002+75_1002+79del MANE Select	ENSP00000380378.4:n.1002+75_1002+79del
ENST00000571495.2:n.2087+75_2087+79del
ENST00000674608.1:c.1056+75_1056+79del	ENSP00000501976.1:n.1056+75_1056+79del
ENST00000674717.1:c.807+75_807+79del	ENSP00000501931.1:n.807+75_807+79del
ENST00000675084.1:n.256+75_256+79del
ENST00000675202.1:c.1002+75_1002+79del	ENSP00000502843.1:n.1002+75_1002+79del
ENST00000675331.1:c.1002+75_1002+79del	ENSP00000502031.1:n.1002+75_1002+79del
ENST00000675385.1:n.616+75_616+79del
ENST00000675390.1:c.1002+75_1002+79del	ENSP00000501969.1:n.1002+75_1002+79del
ENST00000675574.1:n.4057+75_4057+79del
ENST00000675621.1:c.1002+75_1002+79del	ENSP00000502117.1:n.1002+75_1002+79del
ENST00000675764.1:c.*956+75_*956+79del	ENSP00000502242.1:n.*956+75_*956+79del
ENST00000676077.1:c.*320+75_*320+79del	ENSP00000502507.1:n.*320+75_*320+79del
ENST00000676098.1:c.1002+75_1002+79del	ENSP00000502735.1:n.1002+75_1002+79del
ENST00000676188.1:c.1002+75_1002+79del	ENSP00000502577.1:n.1002+75_1002+79del
ENST00000676353.1:c.807+75_807+79del	ENSP00000502737.1:n.807+75_807+79del
ENST00000397193.7:n.810+75_810+79del
ENST00000397195.9:c.1002+75_1002+79del	ENSP00000380378.4:n.1002+75_1002+79del
ENST00000571495.1:n.726+75_726+79del
ENST00000572915.6:n.676+2585_676+2589del
ENST00000574468.1:c.396+2393_396+2397del	ENSP00000460591.1:n.396+2393_396+2397del
ENST00000574816.5:n.323+75_323+79del
NM_000430.3:c.1002+75_1002+79del	NP_000421.1:n.1002+75_1002+79del
XM_011523901.1:c.1056+75_1056+79del	XP_011522203.1:n.1056+75_1056+79del
XM_011523902.1:c.1056+75_1056+79del	XP_011522204.1:n.1056+75_1056+79del
XM_011523903.1:c.1056+75_1056+79del	XP_011522205.1:n.1056+75_1056+79del
XM_011523901.2:c.1056+75_1056+79del	XP_011522203.1:n.1056+75_1056+79del
XM_011523902.3:c.1056+75_1056+79del	XP_011522204.1:n.1056+75_1056+79del
XM_011523903.2:c.1056+75_1056+79del	XP_011522205.1:n.1056+75_1056+79del
XM_017024701.1:c.1002+75_1002+79del	XP_016880190.1:n.1002+75_1002+79del
XM_017024702.2:c.807+75_807+79del	XP_016880191.1:n.807+75_807+79del
NM_000430.4:c.1002+75_1002+79del MANE Select	NP_000421.1:n.1002+75_1002+79del