Canonical Allele Identifier: CA2616355843

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093480-TCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAACCAATCCTACTAATAAACCAGTTCTGAAGGTGTTGTGTGTGCGCGTGTGGAGTTGGCGGGAAGATAGGAACAAACACAAAGCCCTTTCATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093484_119093610del , CM000673.2:g.119093484_119093610del	GRCh38
NC_000011.9:g.118964194_118964320del , CM000673.1:g.118964194_118964320del	GRCh37
NC_000011.8:g.118469404_118469530del	NCBI36
NG_008093.1:g.13608_13734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*201_*327del	ENSP00000509288.1:n.*201_*327del