Canonical Allele Identifier: CA802815678

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1177309444
• gnomAD v3: 5-119531236-TTTTAAAG-T
• gnomAD v4: 5-119531236-TTTTAAAG-T
• MyVariant Identifiers: chr5:g.118866932_118866938del (hg19) ; chr5:g.119531237_119531243del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531241_119531247del , CM000667.2:g.119531241_119531247del	GRCh38
NC_000005.9:g.118866936_118866942del , CM000667.1:g.118866936_118866942del	GRCh37
NC_000005.8:g.118894835_118894841del	NCBI36
NG_008182.1:g.83789_83795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1786-25_1786-19del	ENSP00000426272.2:n.1786-25_1786-19del
ENST00000518349.6:c.1099-25_1099-19del	ENSP00000507185.1:n.1099-25_1099-19del
ENST00000682445.1:c.*1736-25_*1736-19del	ENSP00000508061.1:n.*1736-25_*1736-19del
ENST00000682531.1:n.3747-25_3747-19del
ENST00000682626.1:c.*1361-25_*1361-19del	ENSP00000507857.1:n.*1361-25_*1361-19del
ENST00000682996.1:c.1783-25_1783-19del	ENSP00000507792.1:n.1783-25_1783-19del
ENST00000683265.1:n.3641-25_3641-19del
ENST00000683335.1:n.3257-25_3257-19del
ENST00000683371.1:c.*1985-25_*1985-19del	ENSP00000508376.1:n.*1985-25_*1985-19del
ENST00000683372.1:n.3865-25_3865-19del
ENST00000683390.1:n.3545-25_3545-19del
ENST00000683476.1:n.697-25_697-19del
ENST00000683549.1:n.3469-25_3469-19del
ENST00000683936.1:c.*3433-25_*3433-19del	ENSP00000507721.1:n.*3433-25_*3433-19del
ENST00000683974.1:n.3584-25_3584-19del
ENST00000683996.1:c.*1065-25_*1065-19del	ENSP00000507060.1:n.*1065-25_*1065-19del
ENST00000684131.1:n.3387-25_3387-19del
ENST00000684160.1:c.*1545-25_*1545-19del	ENSP00000507821.1:n.*1545-25_*1545-19del
ENST00000684214.1:c.1854+1261_1854+1267del	ENSP00000508071.1:n.1854+1261_1854+1267de...
ENST00000414835.7:c.1930-25_1930-19del	ENSP00000411960.3:n.1930-25_1930-19del
ENST00000510025.7:c.1855-25_1855-19del MANE Select	ENSP00000424940.3:n.1855-25_1855-19del
ENST00000643250.1:c.*1727-25_*1727-19del	ENSP00000494737.1:n.*1727-25_*1727-19del
ENST00000644146.1:c.*3126-25_*3126-19del	ENSP00000494808.1:n.*3126-25_*3126-19del
ENST00000645099.1:c.1414-25_1414-19del	ENSP00000496091.1:n.1414-25_1414-19del
ENST00000645702.1:c.*1258-25_*1258-19del	ENSP00000496432.1:n.*1258-25_*1258-19del
ENST00000645832.1:c.*1740-25_*1740-19del	ENSP00000494316.1:n.*1740-25_*1740-19del
ENST00000646058.1:c.1855-25_1855-19del	ENSP00000493579.1:n.1855-25_1855-19del
ENST00000646355.1:c.*1861-25_*1861-19del	ENSP00000493801.1:n.*1861-25_*1861-19del
ENST00000646554.1:c.*1833-25_*1833-19del	ENSP00000494542.1:n.*1833-25_*1833-19del
ENST00000647335.1:c.*1822-25_*1822-19del	ENSP00000495180.1:n.*1822-25_*1822-19del
ENST00000647342.1:c.*1786-25_*1786-19del	ENSP00000494992.1:n.*1786-25_*1786-19del
ENST00000256216.10:c.1855-25_1855-19del	ENSP00000256216.6:n.1855-25_1855-19del
ENST00000414835.6:c.1435-25_1435-19del	ENSP00000411960.2:n.1435-25_1435-19del
ENST00000442060.7:c.*410-25_*410-19del	ENSP00000390208.3:n.*410-25_*410-19del
ENST00000504811.5:c.1930-25_1930-19del	ENSP00000420914.1:n.1930-25_1930-19del
ENST00000509514.5:c.1069-25_1069-19del	ENSP00000426272.1:n.1069-25_1069-19del
ENST00000509606.1:n.150-25_150-19del
ENST00000509951.5:n.309+1261_309+1267del
ENST00000510025.5:c.1783-25_1783-19del	ENSP00000424940.1:n.1783-25_1783-19del
ENST00000513628.5:c.1444-25_1444-19del	ENSP00000425993.1:n.1444-25_1444-19del
ENST00000515235.6:n.3608-25_3608-19del
ENST00000515320.5:c.1801-25_1801-19del	ENSP00000424613.1:n.1801-25_1801-19del
ENST00000522415.5:n.522-25_522-19del
NM_000414.3:c.1855-25_1855-19del	NP_000405.1:n.1855-25_1855-19del
NM_001199291.2:c.1930-25_1930-19del	NP_001186220.1:n.1930-25_1930-19del
NM_001199292.1:c.1801-25_1801-19del	NP_001186221.1:n.1801-25_1801-19del
NM_001292027.1:c.1783-25_1783-19del	NP_001278956.1:n.1783-25_1783-19del
NM_001292028.1:c.1435-25_1435-19del	NP_001278957.1:n.1435-25_1435-19del
NM_000414.4:c.1855-25_1855-19del MANE Select	NP_000405.1:n.1855-25_1855-19del
NM_001199291.3:c.1930-25_1930-19del	NP_001186220.1:n.1930-25_1930-19del
NM_001199292.2:c.1801-25_1801-19del	NP_001186221.1:n.1801-25_1801-19del
NM_001292027.2:c.1783-25_1783-19del	NP_001278956.1:n.1783-25_1783-19del
NM_001292028.2:c.1435-25_1435-19del	NP_001278957.1:n.1435-25_1435-19del
NM_001374497.1:c.1846-25_1846-19del	NP_001361426.1:n.1846-25_1846-19del
NM_001374498.1:c.1783-25_1783-19del	NP_001361427.1:n.1783-25_1783-19del
NM_001374499.1:c.1528-25_1528-19del	NP_001361428.1:n.1528-25_1528-19del
NM_001374500.1:c.1414-25_1414-19del	NP_001361429.1:n.1414-25_1414-19del
NM_001374501.1:c.1444-25_1444-19del	NP_001361430.1:n.1444-25_1444-19del
NM_001374502.1:c.1444-25_1444-19del	NP_001361431.1:n.1444-25_1444-19del
NM_001374503.1:c.1444-25_1444-19del	NP_001361432.1:n.1444-25_1444-19del
NR_164653.1:n.1952-25_1952-19del
NR_164654.1:n.2220-25_2220-19del