Canonical Allele Identifier: CA2596122945

Gene: POLR1C

Linked Data

• gnomAD v3: 6-43520167-CTG-C
• gnomAD v4: 6-43520167-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520169_43520170del , CM000668.2:g.43520169_43520170del	GRCh38
NC_000006.11:g.43487907_43487908del , CM000668.1:g.43487907_43487908del	GRCh37
NC_000006.10:g.43595885_43595886del	NCBI36
NG_028283.1:g.8131_8132del
NG_028283.3:g.15468_15469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.486_487del	ENSP00000496683.1:p.Tyr163ArgfsTer20
ENST00000642195.1:c.486_487del MANE Select	ENSP00000496044.1:p.Tyr163ArgfsTer20
ENST00000643341.1:c.486_487del	ENSP00000496018.1:p.Tyr163ArgfsTer20
ENST00000643799.1:c.486_487del	ENSP00000494529.1:p.Tyr163ArgfsTer20
ENST00000645141.1:c.*97_*98del	ENSP00000496755.1:n.*97_*98del
ENST00000646188.1:c.321_322del	ENSP00000496001.1:p.Tyr108ArgfsTer20
ENST00000646433.1:c.486_487del	ENSP00000494368.1:p.Tyr163ArgfsTer20
ENST00000646700.1:c.486_487del	ENSP00000495521.1:p.Tyr163ArgfsTer20
ENST00000304004.7:c.486_487del	ENSP00000307212.3:p.Tyr163ArgfsTer20
ENST00000372344.6:c.486_487del	ENSP00000361419.2:p.Tyr163ArgfsTer20
ENST00000372389.7:c.486_487del	ENSP00000361465.3:p.Tyr163ArgfsTer20
ENST00000423780.1:c.381-106_381-105del
ENST00000428025.6:c.321_322del	ENSP00000395401.2:p.Tyr108ArgfsTer?
ENST00000455605.2:n.690_691del
ENST00000481352.6:n.769_770del
ENST00000488601.6:n.725_726del
NM_203290.2:c.486_487del	NP_976035.1:p.Tyr163ArgfsTer20
XM_005249491.1:c.486_487del	XP_005249548.1:p.Tyr163ArgfsTer20
XM_011515000.1:c.486_487del	XP_011513302.1:p.Tyr163ArgfsTer20
NM_001318876.1:c.486_487del	NP_001305805.1:p.Tyr163ArgfsTer20
NM_001363658.1:c.486_487del	NP_001350587.1:p.Tyr163ArgfsTer20
NM_203290.3:c.486_487del	NP_976035.1:p.Tyr163ArgfsTer20
NM_203290.4:c.486_487del MANE Select	NP_976035.1:p.Tyr163ArgfsTer20
NM_001363658.2:c.486_487del	NP_001350587.1:p.Tyr163ArgfsTer20
NM_001318876.2:c.486_487del	NP_001305805.1:p.Tyr163ArgfsTer20