Canonical Allele Identifier: CA2243487174
Gene: PAFAH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2665190_2665192delinsCAG , CM000679.2:g.2665190_2665192delinsCAG GRCh38
NC_000017.10:g.2568484_2568486delinsCAG , CM000679.1:g.2568484_2568486delinsCAG GRCh37
NC_000017.9:g.2515234_2515236delinsCAG NCBI36
NG_009799.1:g.76562_76564delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.33-182_33-180delinsCAG MANE Select ENSP00000380378.4:n.33-182_33-180delinsCAG
ENST00000674608.1:c.87-182_87-180delinsCAG ENSP00000501976.1:n.87-182_87-180delinsCAG
ENST00000674717.1:c.-3-1802_-3-1800delinsCAG ENSP00000501931.1:n.-3-1802_-3-1800delinsCAG
ENST00000675202.1:c.33-182_33-180delinsCAG ENSP00000502843.1:n.33-182_33-180delinsCAG
ENST00000675331.1:c.33-182_33-180delinsCAG ENSP00000502031.1:n.33-182_33-180delinsCAG
ENST00000675390.1:c.33-182_33-180delinsCAG ENSP00000501969.1:n.33-182_33-180delinsCAG
ENST00000675430.1:n.260-182_260-180delinsCAG
ENST00000675621.1:c.33-182_33-180delinsCAG ENSP00000502117.1:n.33-182_33-180delinsCAG
ENST00000675764.1:c.131-182_131-180delinsCAG ENSP00000502242.1:n.131-182_131-180delinsCAG
ENST00000676077.1:c.-163-182_-163-180delinsCAG ENSP00000502507.1:n.-163-182_-163-180delinsCAG
ENST00000676098.1:c.33-182_33-180delinsCAG ENSP00000502735.1:n.33-182_33-180delinsCAG
ENST00000676188.1:c.33-182_33-180delinsCAG ENSP00000502577.1:n.33-182_33-180delinsCAG
ENST00000676201.1:n.272-826_272-824delinsCAG
ENST00000676353.1:c.-78-826_-78-824delinsCAG ENSP00000502737.1:n.-78-826_-78-824delinsCAG
ENST00000676456.1:n.223-826_223-824delinsCAG
ENST00000397195.9:c.33-182_33-180delinsCAG ENSP00000380378.4:n.33-182_33-180delinsCAG
ENST00000570400.1:c.33-826_33-824delinsCAG ENSP00000460258.1:n.33-826_33-824delinsCAG
ENST00000572915.6:n.273-1802_273-1800delinsCAG
ENST00000574816.5:n.31-11124_31-11122delinsCAG
ENST00000575477.5:n.620-826_620-824delinsCAG
ENST00000576586.5:c.33-182_33-180delinsCAG ENSP00000461087.1:n.33-182_33-180delinsCAG
NM_000430.3:c.33-182_33-180delinsCAG NP_000421.1:n.33-182_33-180delinsCAG
XM_011523901.1:c.87-182_87-180delinsCAG XP_011522203.1:n.87-182_87-180delinsCAG
XM_011523902.1:c.87-182_87-180delinsCAG XP_011522204.1:n.87-182_87-180delinsCAG
XM_011523903.1:c.87-182_87-180delinsCAG XP_011522205.1:n.87-182_87-180delinsCAG
XM_011523904.1:c.87-182_87-180delinsCAG XP_011522206.1:n.87-182_87-180delinsCAG
XM_011523901.2:c.87-182_87-180delinsCAG XP_011522203.1:n.87-182_87-180delinsCAG
XM_011523902.3:c.87-182_87-180delinsCAG XP_011522204.1:n.87-182_87-180delinsCAG
XM_011523903.2:c.87-182_87-180delinsCAG XP_011522205.1:n.87-182_87-180delinsCAG
XM_017024701.1:c.33-182_33-180delinsCAG XP_016880190.1:n.33-182_33-180delinsCAG
XM_017024702.2:c.-78-826_-78-824delinsCAG XP_016880191.1:n.-78-826_-78-824delinsCAG
NM_000430.4:c.33-182_33-180delinsCAG MANE Select NP_000421.1:n.33-182_33-180delinsCAG