Canonical Allele Identifier: CA229644814

Gene: HMBS

Linked Data

• dbSNP Id: rs1045294877
• gnomAD v2: 11-118956012-TGGAAC-T
• gnomAD v3: 11-119085302-TGGAAC-T
• gnomAD v4: 11-119085302-TGGAAC-T
• MyVariant Identifiers: chr11:g.118956013_118956017del (hg19) ; chr11:g.119085303_119085307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085308_119085312del , CM000673.2:g.119085308_119085312del	GRCh38
NC_000011.9:g.118956018_118956022del , CM000673.1:g.118956018_118956022del	GRCh37
NC_000011.8:g.118461228_118461232del	NCBI36
NG_008093.1:g.5432_5436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-664_-660del	ENSP00000509288.1:n.-664_-660del
ENST00000691249.1:n.86_90del
ENST00000442944.7:c.33+242_33+246del	ENSP00000392041.3:n.33+242_33+246del
ENST00000534956.2:n.36+242_36+246del
ENST00000536813.6:c.-102+242_-102+246del	ENSP00000438726.2:n.-102+242_-102+246del
ENST00000546302.6:c.33+242_33+246del	ENSP00000445599.1:n.33+242_33+246del
ENST00000640813.1:c.-19+242_-19+246del	ENSP00000491061.1:n.-19+242_-19+246del
ENST00000648026.1:c.27+242_27+246del	ENSP00000498044.1:n.27+242_27+246del
ENST00000649823.1:n.19_23del
ENST00000649868.1:c.33+242_33+246del	ENSP00000497548.1:n.33+242_33+246del
ENST00000650101.1:c.-604_-600del	ENSP00000496970.1:n.-604_-600del
ENST00000650307.1:n.65_69del
ENST00000652429.1:c.33+242_33+246del MANE Select	ENSP00000498786.1:n.33+242_33+246del
ENST00000278715.7:c.33+242_33+246del	ENSP00000278715.3:n.33+242_33+246del
ENST00000442944.6:c.-102+242_-102+246del	ENSP00000392041.2:n.-102+242_-102+246del
ENST00000535793.5:c.33+242_33+246del	ENSP00000439904.1:n.33+242_33+246del
ENST00000536185.5:n.201+242_201+246del
ENST00000536813.5:c.33+242_33+246del	ENSP00000438726.1:n.33+242_33+246del
ENST00000537841.5:c.-19+151_-19+155del	ENSP00000444730.1:n.-19+151_-19+155del
ENST00000542044.5:n.158+242_158+246del
ENST00000542729.5:c.-19+151_-19+155del	ENSP00000443058.1:n.-19+151_-19+155del
ENST00000542822.5:c.124+151_124+155del	ENSP00000444817.1:n.124+151_124+155del
ENST00000543090.5:c.33+242_33+246del	ENSP00000445429.1:n.33+242_33+246del
ENST00000543821.5:n.179+242_179+246del
ENST00000544387.5:c.33+242_33+246del	ENSP00000438424.1:n.33+242_33+246del
ENST00000545621.5:c.33+242_33+246del	ENSP00000444849.1:n.33+242_33+246del
ENST00000545901.5:n.186+242_186+246del
ENST00000546302.5:c.33+242_33+246del	ENSP00000445599.1:n.33+242_33+246del
NM_000190.3:c.33+242_33+246del	NP_000181.2:n.33+242_33+246del
NM_001258208.1:c.33+242_33+246del	NP_001245137.1:n.33+242_33+246del
NM_001258209.1:c.-19+151_-19+155del	NP_001245138.1:n.-19+151_-19+155del
XM_005271531.1:c.-19+151_-19+155del	XP_005271588.1:n.-19+151_-19+155del
XM_005271532.1:c.-19+175_-19+179del	XP_005271589.1:n.-19+175_-19+179del
XM_005271533.2:c.33+242_33+246del	XP_005271590.1:n.33+242_33+246del
NM_000190.4:c.33+242_33+246del MANE Select	NP_000181.2:n.33+242_33+246del
XM_005271533.3:c.33+242_33+246del	XP_005271590.1:n.33+242_33+246del
XM_024448460.1:c.33+242_33+246del	XP_024304228.1:n.33+242_33+246del
NM_001258208.2:c.33+242_33+246del	NP_001245137.1:n.33+242_33+246del
NM_001258209.2:c.-19+151_-19+155del	NP_001245138.1:n.-19+151_-19+155del