Canonical Allele Identifier: CA2616354657

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092095-C-CAGGGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092095_119092096insAGGGGTGG , CM000673.2:g.119092095_119092096insAGGGGTGG	GRCh38
NC_000011.9:g.118962805_118962806insAGGGGTGG , CM000673.1:g.118962805_118962806insAGGGGTGG	GRCh37
NC_000011.8:g.118468015_118468016insAGGGGTGG	NCBI36
NG_008093.1:g.12219_12220insAGGGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-30_448-29insAGGGGTGG	ENSP00000509288.1:n.448-30_448-29insAGGGGTGG
ENST00000691144.1:n.2354-30_2354-29insAGGGGTGG
ENST00000691249.1:n.1197-30_1197-29insAGGGGTGG
ENST00000442944.7:c.595-30_595-29insAGGGGTGG	ENSP00000392041.3:n.595-30_595-29insAGGGGTGG
ENST00000536813.6:c.562-30_562-29insAGGGGTGG	ENSP00000438726.2:n.562-30_562-29insAGGGGTGG
ENST00000546302.6:c.535-30_535-29insAGGGGTGG	ENSP00000445599.1:n.535-30_535-29insAGGGGTGG
ENST00000640813.1:c.461+221_461+222insAGGGGTGG	ENSP00000491061.1:n.461+221_461+222insAGGGGTGG
ENST00000648026.1:c.507-30_507-29insAGGGGTGG	ENSP00000498044.1:n.507-30_507-29insAGGGGTGG
ENST00000648374.1:c.562-30_562-29insAGGGGTGG	ENSP00000497255.1:n.562-30_562-29insAGGGGTGG
ENST00000648488.1:c.*86-30_*86-29insAGGGGTGG	ENSP00000498079.1:n.*86-30_*86-29insAGGGGTGG
ENST00000649823.1:n.830-30_830-29insAGGGGTGG
ENST00000650101.1:c.544-30_544-29insAGGGGTGG	ENSP00000496970.1:n.544-30_544-29insAGGGGTGG
ENST00000650307.1:n.1439-30_1439-29insAGGGGTGG
ENST00000652429.1:c.613-30_613-29insAGGGGTGG MANE Select	ENSP00000498786.1:n.613-30_613-29insAGGGGTGG
ENST00000278715.7:c.613-30_613-29insAGGGGTGG	ENSP00000278715.3:n.613-30_613-29insAGGGGTGG
ENST00000392841.1:c.562-30_562-29insAGGGGTGG	ENSP00000376584.1:n.562-30_562-29insAGGGGTGG
ENST00000442944.6:c.562-30_562-29insAGGGGTGG	ENSP00000392041.2:n.562-30_562-29insAGGGGTGG
ENST00000537841.5:c.562-30_562-29insAGGGGTGG	ENSP00000444730.1:n.562-30_562-29insAGGGGTGG
ENST00000542044.5:n.1058-30_1058-29insAGGGGTGG
ENST00000542345.5:n.751-30_751-29insAGGGGTGG
ENST00000542729.5:c.562-30_562-29insAGGGGTGG	ENSP00000443058.1:n.562-30_562-29insAGGGGTGG
ENST00000543090.5:c.559-309_559-308insAGGGGTGG	ENSP00000445429.1:n.559-309_559-308insAGGGGTGG
ENST00000543543.5:n.848-30_848-29insAGGGGTGG
ENST00000544182.1:n.558_559insAGGGGTGG
ENST00000544387.5:c.613-30_613-29insAGGGGTGG	ENSP00000438424.1:n.613-30_613-29insAGGGGTGG
ENST00000545621.5:c.*508-30_*508-29insAGGGGTGG	ENSP00000444849.1:n.*508-30_*508-29insAGGGGTGG
ENST00000546226.5:n.901-30_901-29insAGGGGTGG
ENST00000546302.5:c.535-30_535-29insAGGGGTGG	ENSP00000445599.1:n.535-30_535-29insAGGGGTGG
NM_000190.3:c.613-30_613-29insAGGGGTGG	NP_000181.2:n.613-30_613-29insAGGGGTGG
NM_001024382.1:c.562-30_562-29insAGGGGTGG	NP_001019553.1:n.562-30_562-29insAGGGGTGG
NM_001258208.1:c.613-30_613-29insAGGGGTGG	NP_001245137.1:n.613-30_613-29insAGGGGTGG
NM_001258209.1:c.562-30_562-29insAGGGGTGG	NP_001245138.1:n.562-30_562-29insAGGGGTGG
XM_005271531.1:c.562-30_562-29insAGGGGTGG	XP_005271588.1:n.562-30_562-29insAGGGGTGG
XM_005271532.1:c.562-30_562-29insAGGGGTGG	XP_005271589.1:n.562-30_562-29insAGGGGTGG
XM_005271533.2:c.559-30_559-29insAGGGGTGG	XP_005271590.1:n.559-30_559-29insAGGGGTGG
XM_011542796.1:c.448-30_448-29insAGGGGTGG	XP_011541098.1:n.448-30_448-29insAGGGGTGG
NM_000190.4:c.613-30_613-29insAGGGGTGG MANE Select	NP_000181.2:n.613-30_613-29insAGGGGTGG
NM_001024382.2:c.562-30_562-29insAGGGGTGG	NP_001019553.1:n.562-30_562-29insAGGGGTGG
XM_005271533.3:c.559-30_559-29insAGGGGTGG	XP_005271590.1:n.559-30_559-29insAGGGGTGG
XM_017017629.1:c.562-30_562-29insAGGGGTGG	XP_016873118.1:n.562-30_562-29insAGGGGTGG
XM_024448460.1:c.559-30_559-29insAGGGGTGG	XP_024304228.1:n.559-30_559-29insAGGGGTGG
NM_001258208.2:c.613-30_613-29insAGGGGTGG	NP_001245137.1:n.613-30_613-29insAGGGGTGG
NM_001258209.2:c.562-30_562-29insAGGGGTGG	NP_001245138.1:n.562-30_562-29insAGGGGTGG