Canonical Allele Identifier: CA2695215690

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085066_119085067del , CM000673.2:g.119085066_119085067del	GRCh38
NC_000011.9:g.118955776_118955777del , CM000673.1:g.118955776_118955777del	GRCh37
NC_000011.8:g.118460986_118460987del	NCBI36
NG_008093.1:g.5190_5191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33_33+1del
ENST00000534956.2:n.36_36+1del
ENST00000536813.6:c.-102_-102+1del
ENST00000546302.6:c.33_33+1del
ENST00000640813.1:c.-19_-19+1del
ENST00000648026.1:c.27_27+1del
ENST00000649868.1:c.33_33+1del
ENST00000652429.1:c.33_33+1del
ENST00000278715.7:c.33_33+1del
ENST00000442944.6:c.-102_-102+1del
ENST00000535793.5:c.33_33+1del
ENST00000536185.5:n.201_201+1del
ENST00000536813.5:c.33_33+1del
ENST00000537841.5:c.-110_-109del	ENSP00000444730.1:n.-110_-109del
ENST00000542044.5:n.158_158+1del
ENST00000542729.5:c.-110_-109del	ENSP00000443058.1:n.-110_-109del
ENST00000542822.5:c.33_34del	ENSP00000444817.1:p.Val12GlufsTer3
ENST00000543090.5:c.33_33+1del
ENST00000543821.5:n.179_179+1del
ENST00000544387.5:c.33_33+1del
ENST00000545621.5:c.33_33+1del
ENST00000545901.5:n.186_186+1del
ENST00000546302.5:c.33_33+1del
NM_000190.3:c.33_33+1del
NM_001258208.1:c.33_33+1del
NM_001258209.1:c.-110_-109del	NP_001245138.1:n.-110_-109del
XM_005271531.1:c.-110_-109del	XP_005271588.1:n.-110_-109del
XM_005271532.1:c.-86_-85del	XP_005271589.1:n.-86_-85del
XM_005271533.2:c.33_33+1del
NM_000190.4:c.33_33+1del
XM_005271533.3:c.33_33+1del
XM_024448460.1:c.33_33+1del
NM_001258208.2:c.33_33+1del
NM_001258209.2:c.-110_-109del	NP_001245138.1:n.-110_-109del