Canonical Allele Identifier: CA2695215856

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092813_119092817delinsGAAGTG , CM000673.2:g.119092813_119092817delinsGAAGTG	GRCh38
NC_000011.9:g.118963523_118963527delinsGAAGTG , CM000673.1:g.118963523_118963527delinsGAAGTG	GRCh37
NC_000011.8:g.118468733_118468737delinsGAAGTG	NCBI36
NG_008093.1:g.12937_12941delinsGAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.660+2_660+6delinsGAAGTG	ENSP00000509288.1:n.660+2_660+6delinsGAAGTG
ENST00000691144.1:n.3040+2_3040+6delinsGAAGTG
ENST00000691249.1:n.1649+2_1649+6delinsGAAGTG
ENST00000442944.7:c.807+2_807+6delinsGAAGTG	ENSP00000392041.3:n.807+2_807+6delinsGAAGTG
ENST00000640813.1:c.*62+2_*62+6delinsGAAGTG	ENSP00000491061.1:n.*62+2_*62+6delinsGAAGTG
ENST00000648026.1:c.719+2_719+6delinsGAAGTG	ENSP00000498044.1:n.719+2_719+6delinsGAAGTG
ENST00000648374.1:c.774+2_774+6delinsGAAGTG	ENSP00000497255.1:n.774+2_774+6delinsGAAGTG
ENST00000649823.1:n.1282+2_1282+6delinsGAAGTG
ENST00000650101.1:c.756+2_756+6delinsGAAGTG	ENSP00000496970.1:n.756+2_756+6delinsGAAGTG
ENST00000650307.1:n.1651+2_1651+6delinsGAAGTG
ENST00000652429.1:c.825+2_825+6delinsGAAGTG MANE Select	ENSP00000498786.1:n.825+2_825+6delinsGAAGTG
ENST00000278715.7:c.825+2_825+6delinsGAAGTG	ENSP00000278715.3:n.825+2_825+6delinsGAAGTG
ENST00000392841.1:c.774+2_774+6delinsGAAGTG	ENSP00000376584.1:n.774+2_774+6delinsGAAGTG
ENST00000442944.6:c.774+2_774+6delinsGAAGTG	ENSP00000392041.2:n.774+2_774+6delinsGAAGTG
ENST00000537841.5:c.774+2_774+6delinsGAAGTG	ENSP00000444730.1:n.774+2_774+6delinsGAAGTG
ENST00000539045.1:n.203_207delinsGAAGTG
ENST00000542044.5:n.1270+2_1270+6delinsGAAGTG
ENST00000542729.5:c.654+2_654+6delinsGAAGTG	ENSP00000443058.1:n.654+2_654+6delinsGAAGTG
ENST00000543090.5:c.732+2_732+6delinsGAAGTG	ENSP00000445429.1:n.732+2_732+6delinsGAAGTG
ENST00000543543.5:n.1300+2_1300+6delinsGAAGTG
ENST00000544182.1:n.1274+2_1274+6delinsGAAGTG
ENST00000544387.5:c.705+2_705+6delinsGAAGTG	ENSP00000438424.1:n.705+2_705+6delinsGAAGTG
ENST00000546226.5:n.1587+2_1587+6delinsGAAGTG
NM_000190.3:c.825+2_825+6delinsGAAGTG	NP_000181.2:n.825+2_825+6delinsGAAGTG
NM_001024382.1:c.774+2_774+6delinsGAAGTG	NP_001019553.1:n.774+2_774+6delinsGAAGTG
NM_001258208.1:c.705+2_705+6delinsGAAGTG	NP_001245137.1:n.705+2_705+6delinsGAAGTG
NM_001258209.1:c.654+2_654+6delinsGAAGTG	NP_001245138.1:n.654+2_654+6delinsGAAGTG
XM_005271531.1:c.774+2_774+6delinsGAAGTG	XP_005271588.1:n.774+2_774+6delinsGAAGTG
XM_005271532.1:c.774+2_774+6delinsGAAGTG	XP_005271589.1:n.774+2_774+6delinsGAAGTG
XM_005271533.2:c.771+2_771+6delinsGAAGTG	XP_005271590.1:n.771+2_771+6delinsGAAGTG
XM_011542796.1:c.660+2_660+6delinsGAAGTG	XP_011541098.1:n.660+2_660+6delinsGAAGTG
NM_000190.4:c.825+2_825+6delinsGAAGTG MANE Select	NP_000181.2:n.825+2_825+6delinsGAAGTG
NM_001024382.2:c.774+2_774+6delinsGAAGTG	NP_001019553.1:n.774+2_774+6delinsGAAGTG
XM_005271533.3:c.771+2_771+6delinsGAAGTG	XP_005271590.1:n.771+2_771+6delinsGAAGTG
XM_017017629.1:c.774+2_774+6delinsGAAGTG	XP_016873118.1:n.774+2_774+6delinsGAAGTG
XM_024448460.1:c.651+2_651+6delinsGAAGTG	XP_024304228.1:n.651+2_651+6delinsGAAGTG
NM_001258208.2:c.705+2_705+6delinsGAAGTG	NP_001245137.1:n.705+2_705+6delinsGAAGTG
NM_001258209.2:c.654+2_654+6delinsGAAGTG	NP_001245138.1:n.654+2_654+6delinsGAAGTG