Canonical Allele Identifier: CA589274845

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1423085838
• gnomAD v2: 9-99006546-TCAAGGACTCACAGCCGCCCACCTCACCTGGATGATGA-T
• gnomAD v3: 9-96244264-TCAAGGACTCACAGCCGCCCACCTCACCTGGATGATGA-T
• gnomAD v4: 9-96244264-TCAAGGACTCACAGCCGCCCACCTCACCTGGATGATGA-T
• MyVariant Identifiers: chr9:g.99006547_99006583del (hg19) ; chr9:g.96244265_96244301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244274_96244310del , CM000671.2:g.96244274_96244310del	GRCh38
NC_000009.11:g.99006556_99006592del , CM000671.1:g.99006556_99006592del	GRCh37
NC_000009.10:g.98046377_98046413del	NCBI36
NG_008157.1:g.62852_62888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+28_672+64del	ENSP00000364411.2:n.672+28_672+64del
ENST00000375263.8:c.672+28_672+64del MANE Select	ENSP00000364412.3:n.672+28_672+64del
ENST00000463517.2:n.2214+28_2214+64del
ENST00000464104.6:n.1610+28_1610+64del
ENST00000467499.6:c.*371+28_*371+64del	ENSP00000498077.1:n.*371+28_*371+64del
ENST00000484816.2:n.23+28_23+64del
ENST00000494814.6:n.212_222+26del
ENST00000643789.1:c.2964+28_2964+64del
ENST00000648146.1:c.672+28_672+64del	ENSP00000497238.1:n.672+28_672+64del
ENST00000648332.1:c.349+28_349+64del	ENSP00000497562.1:n.349+28_349+64del
ENST00000648799.1:c.564+28_564+64del	ENSP00000498039.1:n.564+28_564+64del
ENST00000650005.1:c.601+28_601+64del	ENSP00000498121.1:n.601+28_601+64del
ENST00000375262.3:c.672+28_672+64del	ENSP00000364411.2:n.672+28_672+64del
ENST00000375263.7:c.672+28_672+64del	ENSP00000364412.3:n.672+28_672+64del
ENST00000464104.5:n.525+28_525+64del
ENST00000484816.1:n.22+28_22+64del
ENST00000494814.5:n.221_231+26del
NM_000197.1:c.672+28_672+64del	NP_000188.1:n.672+28_672+64del
XM_005251970.3:c.312+28_312+64del	XP_005252027.1:n.312+28_312+64del
XM_011518618.1:c.672+28_672+64del	XP_011516920.1:n.672+28_672+64del
XM_011518619.1:c.672+28_672+64del	XP_011516921.1:n.672+28_672+64del
XM_011518620.1:c.564+28_564+64del	XP_011516922.1:n.564+28_564+64del
XM_011518621.1:c.700_710+26del
NM_000197.2:c.672+28_672+64del MANE Select	NP_000188.1:n.672+28_672+64del
XM_011518618.2:c.672+28_672+64del	XP_011516920.1:n.672+28_672+64del
XM_011518619.2:c.672+28_672+64del	XP_011516921.1:n.672+28_672+64del
XM_017014671.1:c.672+28_672+64del	XP_016870160.1:n.672+28_672+64del
XM_017014672.1:c.672+28_672+64del	XP_016870161.1:n.672+28_672+64del
XM_017014673.2:c.636+28_636+64del	XP_016870162.1:n.636+28_636+64del
XM_017014674.1:c.564+28_564+64del	XP_016870163.1:n.564+28_564+64del
XM_017014675.1:c.510+28_510+64del	XP_016870164.1:n.510+28_510+64del
XM_017014677.1:c.312+28_312+64del	XP_016870166.1:n.312+28_312+64del
XM_024447529.1:c.510+28_510+64del	XP_024303297.1:n.510+28_510+64del
XR_002956778.1:n.3134_3144+26del