Canonical Allele Identifier: CA2573146871

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1507808
• ClinVar RCV Id: RCV002013645
• dbSNP Id: rs2134854631

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088310_119088312del , CM000673.2:g.119088310_119088312del	GRCh38
NC_000011.9:g.118959020_118959022del , CM000673.1:g.118959020_118959022del	GRCh37
NC_000011.8:g.118464230_118464232del	NCBI36
NG_008093.1:g.8434_8436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-78-325_-78-323del	ENSP00000509288.1:n.-78-325_-78-323del
ENST00000691144.1:n.1045_1047del
ENST00000691249.1:n.672-325_672-323del
ENST00000442944.7:c.87+2_87+4del
ENST00000534956.2:n.37-325_37-323del
ENST00000536813.6:c.36+2_36+4del
ENST00000546302.6:c.87+2_87+4del
ENST00000640813.1:c.36+2_36+4del
ENST00000648026.1:c.81+2_81+4del
ENST00000648374.1:c.36+2_36+4del
ENST00000648488.1:c.36+2_36+4del
ENST00000649823.1:n.304+2_304+4del
ENST00000649868.1:c.34-790_34-788del	ENSP00000497548.1:n.34-790_34-788del
ENST00000650101.1:c.36+2_36+4del
ENST00000650307.1:n.540-325_540-323del
ENST00000652429.1:c.87+2_87+4del
ENST00000278715.7:c.87+2_87+4del
ENST00000392841.1:c.36+2_36+4del
ENST00000442944.6:c.36+2_36+4del
ENST00000535253.5:c.36+2_36+4del
ENST00000535793.5:c.34-325_34-323del	ENSP00000439904.1:n.34-325_34-323del
ENST00000536185.5:n.255+2_255+4del
ENST00000536813.5:c.87+2_87+4del
ENST00000537841.5:c.36+2_36+4del
ENST00000539986.5:c.36+2_36+4del
ENST00000542044.5:n.159-325_159-323del
ENST00000542345.5:n.225+2_225+4del
ENST00000542729.5:c.36+2_36+4del
ENST00000542822.5:c.178+2_178+4del
ENST00000543090.5:c.34-325_34-323del	ENSP00000445429.1:n.34-325_34-323del
ENST00000543543.5:n.322+2_322+4del
ENST00000543821.5:n.233+2_233+4del
ENST00000544360.5:n.55+2_55+4del
ENST00000544387.5:c.87+2_87+4del
ENST00000545621.5:c.87+2_87+4del
ENST00000545901.5:n.240+2_240+4del
ENST00000546226.5:n.146+2_146+4del
ENST00000546302.5:c.87+2_87+4del
NM_000190.3:c.87+2_87+4del
NM_001024382.1:c.36+2_36+4del
NM_001258208.1:c.87+2_87+4del
NM_001258209.1:c.36+2_36+4del
XM_005271531.1:c.36+2_36+4del
XM_005271532.1:c.36+2_36+4del
XM_005271533.2:c.34-325_34-323del	XP_005271590.1:n.34-325_34-323del
XM_011542796.1:c.-79+232_-79+234del	XP_011541098.1:n.-79+232_-79+234del
NM_000190.4:c.87+2_87+4del
NM_001024382.2:c.36+2_36+4del
XM_005271533.3:c.34-325_34-323del	XP_005271590.1:n.34-325_34-323del
XM_017017629.1:c.36+2_36+4del
XM_024448460.1:c.34-325_34-323del	XP_024304228.1:n.34-325_34-323del
NM_001258208.2:c.87+2_87+4del
NM_001258209.2:c.36+2_36+4del