Canonical Allele Identifier: CA2695215845

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092512_119092525delinsGCTGCATCGCTGAA , CM000673.2:g.119092512_119092525delinsGCTGCATCGCTGAA	GRCh38
NC_000011.9:g.118963222_118963235delinsGCTGCATCGCTGAA , CM000673.1:g.118963222_118963235delinsGCTGCATCGCTGAA	GRCh37
NC_000011.8:g.118468432_118468445delinsGCTGCATCGCTGAA	NCBI36
NG_008093.1:g.12636_12649delinsGCTGCATCGCTGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.595_606+2delinsGCTGCATCGCTGAA
ENST00000691144.1:n.2741_2754delinsGCTGCATCGCTGAA
ENST00000691249.1:n.1584_1595+2delinsGCTGCATCGCTGAA
ENST00000442944.7:c.742_753+2delinsGCTGCATCGCTGAA
ENST00000640813.1:c.570_*8+2delinsGCTGCATCGCTGAA
ENST00000648026.1:c.654_665+2delinsGCTGCATCGCTGAA
ENST00000648374.1:c.709_720+2delinsGCTGCATCGCTGAA
ENST00000649823.1:n.1217_1228+2delinsGCTGCATCGCTGAA
ENST00000650101.1:c.691_702+2delinsGCTGCATCGCTGAA
ENST00000650307.1:n.1586_1597+2delinsGCTGCATCGCTGAA
ENST00000652429.1:c.760_771+2delinsGCTGCATCGCTGAA
ENST00000278715.7:c.760_771+2delinsGCTGCATCGCTGAA
ENST00000392841.1:c.709_720+2delinsGCTGCATCGCTGAA
ENST00000442944.6:c.709_720+2delinsGCTGCATCGCTGAA
ENST00000537841.5:c.709_720+2delinsGCTGCATCGCTGAA
ENST00000542044.5:n.1205_1216+2delinsGCTGCATCGCTGAA
ENST00000542729.5:c.601-246_601-233delinsGCTGCATCGCTGAA	ENSP00000443058.1:n.601-246_601-233delins...
ENST00000543090.5:c.667_678+2delinsGCTGCATCGCTGAA
ENST00000543543.5:n.1235_1246+2delinsGCTGCATCGCTGAA
ENST00000544182.1:n.975_988delinsGCTGCATCGCTGAA
ENST00000544387.5:c.652-246_652-233delinsGCTGCATCGCTGAA	ENSP00000438424.1:n.652-246_652-233delins...
ENST00000546226.5:n.1288_1301delinsGCTGCATCGCTGAA
NM_000190.3:c.760_771+2delinsGCTGCATCGCTGAA
NM_001024382.1:c.709_720+2delinsGCTGCATCGCTGAA
NM_001258208.1:c.652-246_652-233delinsGCTGCATCGCTGAA	NP_001245137.1:n.652-246_652-233delinsGCT...
NM_001258209.1:c.601-246_601-233delinsGCTGCATCGCTGAA	NP_001245138.1:n.601-246_601-233delinsGCT...
XM_005271531.1:c.709_720+2delinsGCTGCATCGCTGAA
XM_005271532.1:c.709_720+2delinsGCTGCATCGCTGAA
XM_005271533.2:c.706_717+2delinsGCTGCATCGCTGAA
XM_011542796.1:c.595_606+2delinsGCTGCATCGCTGAA
NM_000190.4:c.760_771+2delinsGCTGCATCGCTGAA
NM_001024382.2:c.709_720+2delinsGCTGCATCGCTGAA
XM_005271533.3:c.706_717+2delinsGCTGCATCGCTGAA
XM_017017629.1:c.709_720+2delinsGCTGCATCGCTGAA
XM_024448460.1:c.598-246_598-233delinsGCTGCATCGCTGAA	XP_024304228.1:n.598-246_598-233delinsGCT...
NM_001258208.2:c.652-246_652-233delinsGCTGCATCGCTGAA	NP_001245137.1:n.652-246_652-233delinsGCT...
NM_001258209.2:c.601-246_601-233delinsGCTGCATCGCTGAA	NP_001245138.1:n.601-246_601-233delinsGCT...