Canonical Allele Identifier: CA6314014

Gene: HMBS

Linked Data

• dbSNP Id: rs759515966
• ExAC: 11:118960465 CTGCAAGTAAGAGTCT / C
• gnomAD v2: 11-118960465-CTGCAAGTAAGAGTCT-C
• gnomAD v4: 11-119089755-CTGCAAGTAAGAGTCT-C
• MyVariant Identifiers: chr11:g.118960466_118960480del (hg19) ; chr11:g.119089756_119089770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089766_119089780del , CM000673.2:g.119089766_119089780del	GRCh38
NC_000011.9:g.118960476_118960490del , CM000673.1:g.118960476_118960490del	GRCh37
NC_000011.8:g.118465686_118465700del	NCBI36
NG_008093.1:g.9890_9904del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.179+6_179+20del
ENST00000686690.1:n.971_985del
ENST00000691144.1:n.2085+6_2085+20del
ENST00000691249.1:n.928+6_928+20del
ENST00000442944.7:c.326+6_326+20del
ENST00000534956.2:n.293+6_293+20del
ENST00000536813.6:c.293+6_293+20del
ENST00000546302.6:c.267-224_267-210del	ENSP00000445599.1:n.267-224_267-210del
ENST00000640813.1:c.293+6_293+20del
ENST00000648026.1:c.338+6_338+20del
ENST00000648374.1:c.293+6_293+20del
ENST00000648488.1:c.293+6_293+20del
ENST00000649823.1:n.561+6_561+20del
ENST00000649868.1:c.*52+6_*52+20del
ENST00000650101.1:c.275+6_275+20del
ENST00000650307.1:n.1170+6_1170+20del
ENST00000652429.1:c.344+6_344+20del
ENST00000278715.7:c.344+6_344+20del
ENST00000392841.1:c.293+6_293+20del
ENST00000442944.6:c.293+6_293+20del
ENST00000534956.1:n.260+6_260+20del
ENST00000535253.5:c.293+6_293+20del
ENST00000535793.5:c.*239+6_*239+20del
ENST00000536813.5:c.326+6_326+20del
ENST00000537841.5:c.293+6_293+20del
ENST00000539986.5:c.293+6_293+20del
ENST00000542044.5:n.789+6_789+20del
ENST00000542345.5:n.482+6_482+20del
ENST00000542729.5:c.293+6_293+20del
ENST00000542822.5:c.*280+6_*280+20del
ENST00000543090.5:c.290+6_290+20del
ENST00000543543.5:n.579+6_579+20del
ENST00000543821.5:n.496_505+5del
ENST00000544360.5:n.312+6_312+20del
ENST00000544387.5:c.344+6_344+20del
ENST00000545621.5:c.*239+6_*239+20del
ENST00000546226.5:n.409_423del
ENST00000546302.5:c.267-224_267-210del	ENSP00000445599.1:n.267-224_267-210del
NM_000190.3:c.344+6_344+20del
NM_001024382.1:c.293+6_293+20del
NM_001258208.1:c.344+6_344+20del
NM_001258209.1:c.293+6_293+20del
XM_005271531.1:c.293+6_293+20del
XM_005271532.1:c.293+6_293+20del
XM_005271533.2:c.290+6_290+20del
XM_011542796.1:c.179+6_179+20del
NM_000190.4:c.344+6_344+20del
NM_001024382.2:c.293+6_293+20del
XM_005271533.3:c.290+6_290+20del
XM_017017629.1:c.293+6_293+20del
XM_024448460.1:c.290+6_290+20del
NM_001258208.2:c.344+6_344+20del
NM_001258209.2:c.293+6_293+20del