Canonical Allele Identifier: CA2003790515

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091986_119091991delinsCAAAAA , CM000673.2:g.119091986_119091991delinsCAAAAA	GRCh38
NC_000011.9:g.118962696_118962701delinsCAAAAA , CM000673.1:g.118962696_118962701delinsCAAAAA	GRCh37
NC_000011.8:g.118467906_118467911delinsCAAAAA	NCBI36
NG_008093.1:g.12110_12115delinsCAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-139_448-134delinsCAAAAA	ENSP00000509288.1:n.448-139_448-134delinsCAAAAA
ENST00000691144.1:n.2354-139_2354-134delinsCAAAAA
ENST00000691249.1:n.1197-139_1197-134delinsCAAAAA
ENST00000442944.7:c.595-139_595-134delinsCAAAAA	ENSP00000392041.3:n.595-139_595-134delinsCAAAAA
ENST00000534956.2:n.573_578delinsCAAAAA
ENST00000536813.6:c.562-139_562-134delinsCAAAAA	ENSP00000438726.2:n.562-139_562-134delinsCAAAAA
ENST00000546302.6:c.535-139_535-134delinsCAAAAA	ENSP00000445599.1:n.535-139_535-134delinsCAAAAA
ENST00000640813.1:c.461+112_461+117delinsCAAAAA	ENSP00000491061.1:n.461+112_461+117delinsCAAAAA
ENST00000648026.1:c.506+112_506+117delinsCAAAAA	ENSP00000498044.1:n.506+112_506+117delinsCAAAAA
ENST00000648374.1:c.562-139_562-134delinsCAAAAA	ENSP00000497255.1:n.562-139_562-134delinsCAAAAA
ENST00000648488.1:c.*86-139_*86-134delinsCAAAAA	ENSP00000498079.1:n.*86-139_*86-134delinsCAAAAA
ENST00000649823.1:n.830-139_830-134delinsCAAAAA
ENST00000649868.1:c.*332_*337delinsCAAAAA	ENSP00000497548.1:n.*332_*337delinsCAAAAA
ENST00000650101.1:c.544-139_544-134delinsCAAAAA	ENSP00000496970.1:n.544-139_544-134delinsCAAAAA
ENST00000650307.1:n.1439-139_1439-134delinsCAAAAA
ENST00000652429.1:c.613-139_613-134delinsCAAAAA MANE Select	ENSP00000498786.1:n.613-139_613-134delinsCAAAAA
ENST00000278715.7:c.613-139_613-134delinsCAAAAA	ENSP00000278715.3:n.613-139_613-134delinsCAAAAA
ENST00000392841.1:c.562-139_562-134delinsCAAAAA	ENSP00000376584.1:n.562-139_562-134delinsCAAAAA
ENST00000442944.6:c.562-139_562-134delinsCAAAAA	ENSP00000392041.2:n.562-139_562-134delinsCAAAAA
ENST00000534956.1:n.540_545delinsCAAAAA
ENST00000537841.5:c.562-139_562-134delinsCAAAAA	ENSP00000444730.1:n.562-139_562-134delinsCAAAAA
ENST00000542044.5:n.1058-139_1058-134delinsCAAAAA
ENST00000542345.5:n.751-139_751-134delinsCAAAAA
ENST00000542729.5:c.562-139_562-134delinsCAAAAA	ENSP00000443058.1:n.562-139_562-134delinsCAAAAA
ENST00000543090.5:c.559-418_559-413delinsCAAAAA	ENSP00000445429.1:n.559-418_559-413delinsCAAAAA
ENST00000543543.5:n.848-139_848-134delinsCAAAAA
ENST00000544182.1:n.449_454delinsCAAAAA
ENST00000544387.5:c.613-139_613-134delinsCAAAAA	ENSP00000438424.1:n.613-139_613-134delinsCAAAAA
ENST00000545621.5:c.*508-139_*508-134delinsCAAAAA	ENSP00000444849.1:n.*508-139_*508-134delinsCAAAAA
ENST00000546226.5:n.901-139_901-134delinsCAAAAA
ENST00000546302.5:c.535-139_535-134delinsCAAAAA	ENSP00000445599.1:n.535-139_535-134delinsCAAAAA
NM_000190.3:c.613-139_613-134delinsCAAAAA	NP_000181.2:n.613-139_613-134delinsCAAAAA
NM_001024382.1:c.562-139_562-134delinsCAAAAA	NP_001019553.1:n.562-139_562-134delinsCAAAAA
NM_001258208.1:c.613-139_613-134delinsCAAAAA	NP_001245137.1:n.613-139_613-134delinsCAAAAA
NM_001258209.1:c.562-139_562-134delinsCAAAAA	NP_001245138.1:n.562-139_562-134delinsCAAAAA
XM_005271531.1:c.562-139_562-134delinsCAAAAA	XP_005271588.1:n.562-139_562-134delinsCAAAAA
XM_005271532.1:c.562-139_562-134delinsCAAAAA	XP_005271589.1:n.562-139_562-134delinsCAAAAA
XM_005271533.2:c.559-139_559-134delinsCAAAAA	XP_005271590.1:n.559-139_559-134delinsCAAAAA
XM_011542796.1:c.448-139_448-134delinsCAAAAA	XP_011541098.1:n.448-139_448-134delinsCAAAAA
NM_000190.4:c.613-139_613-134delinsCAAAAA MANE Select	NP_000181.2:n.613-139_613-134delinsCAAAAA
NM_001024382.2:c.562-139_562-134delinsCAAAAA	NP_001019553.1:n.562-139_562-134delinsCAAAAA
XM_005271533.3:c.559-139_559-134delinsCAAAAA	XP_005271590.1:n.559-139_559-134delinsCAAAAA
XM_017017629.1:c.562-139_562-134delinsCAAAAA	XP_016873118.1:n.562-139_562-134delinsCAAAAA
XM_024448460.1:c.559-139_559-134delinsCAAAAA	XP_024304228.1:n.559-139_559-134delinsCAAAAA
NM_001258208.2:c.613-139_613-134delinsCAAAAA	NP_001245137.1:n.613-139_613-134delinsCAAAAA
NM_001258209.2:c.562-139_562-134delinsCAAAAA	NP_001245138.1:n.562-139_562-134delinsCAAAAA