Canonical Allele Identifier: CA497425604

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2676436-TAGAA-T
• MyVariant Identifiers: chr17:g.2579731_2579734del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676437_2676440del , CM000679.2:g.2676437_2676440del	GRCh38
NC_000017.10:g.2579731_2579734del , CM000679.1:g.2579731_2579734del	GRCh37
NC_000017.9:g.2526481_2526484del	NCBI36
NG_009799.1:g.87809_87812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-68_901-65del MANE Select	ENSP00000380378.4:n.901-68_901-65del
ENST00000571495.2:n.1986-68_1986-65del
ENST00000674608.1:c.955-68_955-65del	ENSP00000501976.1:n.955-68_955-65del
ENST00000674717.1:c.706-68_706-65del	ENSP00000501931.1:n.706-68_706-65del
ENST00000675084.1:n.87_90del
ENST00000675202.1:c.901-68_901-65del	ENSP00000502843.1:n.901-68_901-65del
ENST00000675331.1:c.901-68_901-65del	ENSP00000502031.1:n.901-68_901-65del
ENST00000675385.1:n.447_450del
ENST00000675390.1:c.901-68_901-65del	ENSP00000501969.1:n.901-68_901-65del
ENST00000675574.1:n.3888_3891del
ENST00000675621.1:c.901-68_901-65del	ENSP00000502117.1:n.901-68_901-65del
ENST00000675764.1:c.*855-68_*855-65del	ENSP00000502242.1:n.*855-68_*855-65del
ENST00000676077.1:c.*219-68_*219-65del	ENSP00000502507.1:n.*219-68_*219-65del
ENST00000676098.1:c.901-68_901-65del	ENSP00000502735.1:n.901-68_901-65del
ENST00000676188.1:c.901-68_901-65del	ENSP00000502577.1:n.901-68_901-65del
ENST00000676353.1:c.706-68_706-65del	ENSP00000502737.1:n.706-68_706-65del
ENST00000397193.7:n.709-68_709-65del
ENST00000397195.9:c.901-68_901-65del	ENSP00000380378.4:n.901-68_901-65del
ENST00000571495.1:n.625-68_625-65del
ENST00000572915.6:n.676+2341_676+2344del
ENST00000574468.1:c.396+2149_396+2152del	ENSP00000460591.1:n.396+2149_396+2152del
ENST00000574816.5:n.154_157del
NM_000430.3:c.901-68_901-65del	NP_000421.1:n.901-68_901-65del
XM_011523901.1:c.955-68_955-65del	XP_011522203.1:n.955-68_955-65del
XM_011523902.1:c.955-68_955-65del	XP_011522204.1:n.955-68_955-65del
XM_011523903.1:c.955-68_955-65del	XP_011522205.1:n.955-68_955-65del
XM_011523901.2:c.955-68_955-65del	XP_011522203.1:n.955-68_955-65del
XM_011523902.3:c.955-68_955-65del	XP_011522204.1:n.955-68_955-65del
XM_011523903.2:c.955-68_955-65del	XP_011522205.1:n.955-68_955-65del
XM_017024701.1:c.901-68_901-65del	XP_016880190.1:n.901-68_901-65del
XM_017024702.2:c.706-68_706-65del	XP_016880191.1:n.706-68_706-65del
NM_000430.4:c.901-68_901-65del MANE Select	NP_000421.1:n.901-68_901-65del