Canonical Allele Identifier: CA621540430

Gene: UQCRC2 PDZD9

Linked Data

• gnomAD v2: 16-21985341-T-TTTC
• gnomAD v4: 16-21974020-T-TTTC
• MyVariant Identifiers: chr16:g.21985341_21985342insTTC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21974020_21974021insTTC , CM000678.2:g.21974020_21974021insTTC	GRCh38
NC_000016.9:g.21985341_21985342insTTC , CM000678.1:g.21985341_21985342insTTC	GRCh37
NC_000016.8:g.21892842_21892843insTTC	NCBI36
NG_042228.1:g.25957_25958insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268379.9:c.1047+44_1047+45insTTC (UQCRC2) MANE Select	ENSP00000268379.4:n.1047+44_1047+45insTTC
ENST00000268379.8:c.1047+44_1047+45insTTC (UQCRC2)	ENSP00000268379.4:n.1047+44_1047+45insTTC
ENST00000561553.5:c.1047+44_1047+45insTTC (UQCRC2)	ENSP00000456232.1:n.1047+44_1047+45insTTC
ENST00000563711.5:n.1227+44_1227+45insTTC (UQCRC2)
ENST00000563898.5:c.966+1898_966+1899insTTC (UQCRC2)	ENSP00000456738.1:n.966+1898_966+1899insTTC
NM_003366.2:c.1047+44_1047+45insTTC (UQCRC2)	NP_003357.2:n.1047+44_1047+45insTTC
NM_003366.3:c.1047+44_1047+45insTTC (UQCRC2)	NP_003357.2:n.1047+44_1047+45insTTC
XM_011545785.1:c.786+10255_786+10256insGAA (PDZD9)	XP_011544087.1:n.786+10255_786+10256insGAA
XM_011545785.3:c.786+10255_786+10256insGAA (PDZD9)	XP_011544087.1:n.786+10255_786+10256insGAA
XM_017023109.1:c.606+10255_606+10256insGAA (PDZD9)	XP_016878598.1:n.606+10255_606+10256insGAA
XM_017023110.1:c.600+10255_600+10256insGAA (PDZD9)	XP_016878599.1:n.600+10255_600+10256insGAA
NM_003366.4:c.1047+44_1047+45insTTC (UQCRC2) MANE Select	NP_003357.2:n.1047+44_1047+45insTTC