Canonical Allele Identifier: CA308937277

Gene: POLR1G

Linked Data

• dbSNP Id: rs950191898
• gnomAD v4: 19-45406923-TGGATC-T
• MyVariant Identifiers: chr19:g.45910182_45910186del (hg19) ; chr19:g.45406924_45406928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406926_45406930del , CM000681.2:g.45406926_45406930del	GRCh38
NC_000019.9:g.45910184_45910188del , CM000681.1:g.45910184_45910188del	GRCh37
NC_000019.8:g.50602024_50602028del	NCBI36
NG_015839.2:g.76901_76905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.23-168_23-164del MANE Select	ENSP00000310966.3:n.23-168_23-164del
ENST00000309424.7:c.23-168_23-164del	ENSP00000310966.3:n.23-168_23-164del
ENST00000589804.1:c.29-168_29-164del	ENSP00000465099.1:n.29-168_29-164del
ENST00000590794.1:c.20+208_20+212del
ENST00000592852.1:c.-680_-676del	ENSP00000467771.1:n.-680_-676del
NM_001297590.1:c.29-168_29-164del	NP_001284519.1:n.29-168_29-164del
NM_012099.1:c.23-168_23-164del	NP_036231.1:n.23-168_23-164del
NM_001297590.2:c.29-168_29-164del	NP_001284519.1:n.29-168_29-164del
NM_012099.2:c.23-168_23-164del	NP_036231.1:n.23-168_23-164del
NM_001297590.3:c.29-168_29-164del	NP_001284519.1:n.29-168_29-164del
NM_012099.3:c.23-168_23-164del MANE Select	NP_036231.1:n.23-168_23-164del