Canonical Allele Identifier: CA881236123

Gene: C19orf12

Linked Data

• dbSNP Id: rs1470752041
• gnomAD v3: 19-29702955-TAACAGCCCCCC-T
• gnomAD v4: 19-29702955-TAACAGCCCCCC-T
• MyVariant Identifiers: chr19:g.30193863_30193873del (hg19) ; chr19:g.29702956_29702966del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702956_29702966del , CM000681.2:g.29702956_29702966del	GRCh38
NC_000019.9:g.30193863_30193873del , CM000681.1:g.30193863_30193873del	GRCh37
NC_000019.8:g.34885703_34885713del	NCBI36
NG_031970.1:g.17824_17834del
NG_031970.2:g.17824_17834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614091.5:c.172_182del	ENSP00000482097.2:p.Gly58ArgfsTer10
ENST00000623113.3:c.172_182del	ENSP00000485413.2:p.Gly58ArgfsTer10
ENST00000323670.14:c.172_182del MANE Select	ENSP00000313332.9:p.Gly58ArgfsTer10
ENST00000323670.13:c.172_182del	ENSP00000313332.8:p.Gly58ArgfsTer10
ENST00000342680.5:c.*86_*96del	ENSP00000345497.5:n.*86_*96del
ENST00000392275.1:n.563_573del
ENST00000392276.1:c.-21_-11del	ENSP00000376102.1:n.-21_-11del
ENST00000392278.2:c.205_215del	ENSP00000376103.2:p.Gly69ArgfsTer10
ENST00000591243.1:c.172_182del	ENSP00000467516.1:p.Gly58ArgfsTer10
ENST00000592153.5:c.172_182del	ENSP00000467117.1:p.Gly58ArgfsTer10
ENST00000614091.4:c.172_182del	ENSP00000482097.1:p.Gly58ArgfsTer10
ENST00000623113.1:c.-21_-11del	ENSP00000485413.1:n.-21_-11del
NM_001031726.3:c.205_215del	NP_001026896.2:p.Gly69ArgfsTer10
NM_001256046.1:c.172_182del	NP_001242975.1:p.Gly58ArgfsTer10
NM_001256047.1:c.172_182del	NP_001242976.1:p.Gly58ArgfsTer10
NM_001282929.1:c.-21_-11del	NP_001269858.1:n.-21_-11del
NM_001282930.1:c.-21_-11del	NP_001269859.1:n.-21_-11del
NM_001282931.1:c.-21_-11del	NP_001269860.1:n.-21_-11del
NM_031448.4:c.172_182del	NP_113636.2:p.Gly58ArgfsTer10
XM_024451734.1:c.334_344del	XP_024307502.1:p.Gly112ArgfsTer10
XM_024451735.1:c.172_182del	XP_024307503.1:p.Gly58ArgfsTer10
XM_024451736.1:c.172_182del	XP_024307504.1:p.Gly58ArgfsTer10
XM_024451737.1:c.172_182del	XP_024307505.1:p.Gly58ArgfsTer10
XM_024451738.1:c.172_182del	XP_024307506.1:p.Gly58ArgfsTer10
NM_001256046.2:c.172_182del	NP_001242975.1:p.Gly58ArgfsTer10
NM_001282930.2:c.-21_-11del	NP_001269859.1:n.-21_-11del
NM_001282931.2:c.-21_-11del	NP_001269860.1:n.-21_-11del
NM_031448.6:c.172_182del MANE Select	NP_113636.2:p.Gly58ArgfsTer10
NM_001031726.4:c.172_182del	NP_001026896.3:p.Gly58ArgfsTer10
NM_001256046.3:c.172_182del	NP_001242975.1:p.Gly58ArgfsTer10
NM_001256047.2:c.172_182del	NP_001242976.1:p.Gly58ArgfsTer10
NM_001282930.3:c.-21_-11del	NP_001269859.1:n.-21_-11del
NM_001282931.3:c.-21_-11del	NP_001269860.1:n.-21_-11del