Canonical Allele Identifier: CA1865987669
Gene: HSD17B3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96244279_96244317delinsCGCCCACCTCACCTGGATGATGACAAGGACTCCACAGCT , CM000671.2:g.96244279_96244317delinsCGCCCACCTCACCTGGATGATGACAAGGACTCCACAGCT GRCh38
NC_000009.11:g.99006561_99006599delinsCGCCCACCTCACCTGGATGATGACAAGGACTCCACAGCT , CM000671.1:g.99006561_99006599delinsCGCCCACCTCACCTGGATGATGACAAGGACTCCACAGCT GRCh37
NC_000009.10:g.98046382_98046420delinsCGCCCACCTCACCTGGATGATGACAAGGACTCCACAGCT NCBI36
NG_008157.1:g.62836_62874delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG ENSP00000364411.2:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCA...
ENST00000375263.8:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG MANE Select ENSP00000364412.3:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCA...
ENST00000463517.2:n.2214+12_2214+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
ENST00000464104.6:n.1610+12_1610+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
ENST00000467499.6:c.*371+12_*371+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG ENSP00000498077.1:n.*371+12_*371+50delinsAGCTGTGGAGTCCTTGTCAT...
ENST00000484816.2:n.23+12_23+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
ENST00000494814.6:n.196_222+12delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
ENST00000643789.1:c.2964+12_2964+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
ENST00000648146.1:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG ENSP00000497238.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCA...
ENST00000648332.1:c.349+12_349+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG ENSP00000497562.1:n.349+12_349+50delinsAGCTGTGGAGTCCTTGTCATCA...
ENST00000648799.1:c.564+12_564+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG ENSP00000498039.1:n.564+12_564+50delinsAGCTGTGGAGTCCTTGTCATCA...
ENST00000650005.1:c.601+12_601+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG ENSP00000498121.1:n.601+12_601+50delinsAGCTGTGGAGTCCTTGTCATCA...
ENST00000375262.3:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG ENSP00000364411.2:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCA...
ENST00000375263.7:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG ENSP00000364412.3:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCA...
ENST00000464104.5:n.525+12_525+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
ENST00000484816.1:n.22+12_22+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
ENST00000494814.5:n.205_231+12delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
NM_000197.1:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG NP_000188.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGG...
XM_005251970.3:c.312+12_312+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_005252027.1:n.312+12_312+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_011518618.1:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_011516920.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_011518619.1:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_011516921.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_011518620.1:c.564+12_564+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_011516922.1:n.564+12_564+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_011518621.1:c.684_710+12delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG
NM_000197.2:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG MANE Select NP_000188.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGG...
XM_011518618.2:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_011516920.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_011518619.2:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_011516921.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_017014671.1:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_016870160.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_017014672.1:c.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_016870161.1:n.672+12_672+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_017014673.2:c.636+12_636+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_016870162.1:n.636+12_636+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_017014674.1:c.564+12_564+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_016870163.1:n.564+12_564+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_017014675.1:c.510+12_510+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_016870164.1:n.510+12_510+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_017014677.1:c.312+12_312+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_016870166.1:n.312+12_312+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XM_024447529.1:c.510+12_510+50delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG XP_024303297.1:n.510+12_510+50delinsAGCTGTGGAGTCCTTGTCATCATCC...
XR_002956778.1:n.3118_3144+12delinsAGCTGTGGAGTCCTTGTCATCATCCAGGTGAGGTGGGCG