Canonical Allele Identifier: CA2573153007

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 1373706
• ClinVar RCV Id: RCV001900436
• dbSNP Id: rs2151659410

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665455_2665458dup , CM000679.2:g.2665455_2665458dup	GRCh38
NC_000017.10:g.2568749_2568752dup , CM000679.1:g.2568749_2568752dup	GRCh37
NC_000017.9:g.2515499_2515502dup	NCBI36
NG_009799.1:g.76827_76830dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.116_117+2dup
ENST00000674608.1:c.170_171+2dup
ENST00000674717.1:c.-3-1537_-3-1534dup	ENSP00000501931.1:n.-3-1537_-3-1534dup
ENST00000675202.1:c.116_117+2dup
ENST00000675331.1:c.116_117+2dup
ENST00000675390.1:c.116_117+2dup
ENST00000675430.1:n.343_344+2dup
ENST00000675621.1:c.116_117+2dup
ENST00000675764.1:c.*70_*71+2dup
ENST00000676077.1:c.-80_-79+2dup
ENST00000676098.1:c.116_117+2dup
ENST00000676188.1:c.116_117+2dup
ENST00000676201.1:n.272-561_272-558dup
ENST00000676353.1:c.-78-561_-78-558dup	ENSP00000502737.1:n.-78-561_-78-558dup
ENST00000676456.1:n.223-561_223-558dup
ENST00000397195.9:c.116_117+2dup
ENST00000570400.1:c.33-561_33-558dup	ENSP00000460258.1:n.33-561_33-558dup
ENST00000572915.6:n.273-1537_273-1534dup
ENST00000574816.5:n.31-10859_31-10856dup
ENST00000575477.5:n.620-561_620-558dup
ENST00000576586.5:c.116_117+2dup
ENST00000609078.1:n.75_76+2dup
NM_000430.3:c.116_117+2dup
XM_011523901.1:c.170_171+2dup
XM_011523902.1:c.170_171+2dup
XM_011523903.1:c.170_171+2dup
XM_011523904.1:c.170_171+2dup
XM_011523901.2:c.170_171+2dup
XM_011523902.3:c.170_171+2dup
XM_011523903.2:c.170_171+2dup
XM_017024701.1:c.116_117+2dup
XM_017024702.2:c.-78-561_-78-558dup	XP_016880191.1:n.-78-561_-78-558dup
NM_000430.4:c.116_117+2dup