Canonical Allele Identifier: CA286908932

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs997656448
• gnomAD v2: 17-2579965-C-CTA
• gnomAD v3: 17-2676671-C-CTA
• gnomAD v4: 17-2676671-C-CTA
• MyVariant Identifiers: chr17:g.2579965_2579966insTA (hg19) ; chr17:g.2676671_2676672insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676672_2676673insAT , CM000679.2:g.2676672_2676673insAT	GRCh38
NC_000017.10:g.2579966_2579967insAT , CM000679.1:g.2579966_2579967insAT	GRCh37
NC_000017.9:g.2526716_2526717insAT	NCBI36
NG_009799.1:g.88044_88045insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.1002+66_1002+67insAT MANE Select	ENSP00000380378.4:n.1002+66_1002+67insAT
ENST00000571495.2:n.2087+66_2087+67insAT
ENST00000674608.1:c.1056+66_1056+67insAT	ENSP00000501976.1:n.1056+66_1056+67insAT
ENST00000674717.1:c.807+66_807+67insAT	ENSP00000501931.1:n.807+66_807+67insAT
ENST00000675084.1:n.256+66_256+67insAT
ENST00000675202.1:c.1002+66_1002+67insAT	ENSP00000502843.1:n.1002+66_1002+67insAT
ENST00000675331.1:c.1002+66_1002+67insAT	ENSP00000502031.1:n.1002+66_1002+67insAT
ENST00000675385.1:n.616+66_616+67insAT
ENST00000675390.1:c.1002+66_1002+67insAT	ENSP00000501969.1:n.1002+66_1002+67insAT
ENST00000675574.1:n.4057+66_4057+67insAT
ENST00000675621.1:c.1002+66_1002+67insAT	ENSP00000502117.1:n.1002+66_1002+67insAT
ENST00000675764.1:c.*956+66_*956+67insAT	ENSP00000502242.1:n.*956+66_*956+67insAT
ENST00000676077.1:c.*320+66_*320+67insAT	ENSP00000502507.1:n.*320+66_*320+67insAT
ENST00000676098.1:c.1002+66_1002+67insAT	ENSP00000502735.1:n.1002+66_1002+67insAT
ENST00000676188.1:c.1002+66_1002+67insAT	ENSP00000502577.1:n.1002+66_1002+67insAT
ENST00000676353.1:c.807+66_807+67insAT	ENSP00000502737.1:n.807+66_807+67insAT
ENST00000397193.7:n.810+66_810+67insAT
ENST00000397195.9:c.1002+66_1002+67insAT	ENSP00000380378.4:n.1002+66_1002+67insAT
ENST00000571495.1:n.726+66_726+67insAT
ENST00000572915.6:n.676+2576_676+2577insAT
ENST00000574468.1:c.396+2384_396+2385insAT	ENSP00000460591.1:n.396+2384_396+2385insAT
ENST00000574816.5:n.323+66_323+67insAT
NM_000430.3:c.1002+66_1002+67insAT	NP_000421.1:n.1002+66_1002+67insAT
XM_011523901.1:c.1056+66_1056+67insAT	XP_011522203.1:n.1056+66_1056+67insAT
XM_011523902.1:c.1056+66_1056+67insAT	XP_011522204.1:n.1056+66_1056+67insAT
XM_011523903.1:c.1056+66_1056+67insAT	XP_011522205.1:n.1056+66_1056+67insAT
XM_011523901.2:c.1056+66_1056+67insAT	XP_011522203.1:n.1056+66_1056+67insAT
XM_011523902.3:c.1056+66_1056+67insAT	XP_011522204.1:n.1056+66_1056+67insAT
XM_011523903.2:c.1056+66_1056+67insAT	XP_011522205.1:n.1056+66_1056+67insAT
XM_017024701.1:c.1002+66_1002+67insAT	XP_016880190.1:n.1002+66_1002+67insAT
XM_017024702.2:c.807+66_807+67insAT	XP_016880191.1:n.807+66_807+67insAT
NM_000430.4:c.1002+66_1002+67insAT MANE Select	NP_000421.1:n.1002+66_1002+67insAT