Canonical Allele Identifier: CA621540428

Gene: UQCRC2 PDZD9

Linked Data

• dbSNP Id: rs1341337873
• gnomAD v2: 16-21985336-T-TTAA
• MyVariant Identifiers: chr16:g.21985336_21985337insTAA (hg19) ; chr16:g.21974015_21974016insTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21974017_21974018insATA , CM000678.2:g.21974017_21974018insATA	GRCh38
NC_000016.9:g.21985338_21985339insATA , CM000678.1:g.21985338_21985339insATA	GRCh37
NC_000016.8:g.21892839_21892840insATA	NCBI36
NG_042228.1:g.25954_25955insATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268379.9:c.1047+41_1047+42insATA (UQCRC2) MANE Select	ENSP00000268379.4:n.1047+41_1047+42insATA
ENST00000268379.8:c.1047+41_1047+42insATA (UQCRC2)	ENSP00000268379.4:n.1047+41_1047+42insATA
ENST00000561553.5:c.1047+41_1047+42insATA (UQCRC2)	ENSP00000456232.1:n.1047+41_1047+42insATA
ENST00000563711.5:n.1227+41_1227+42insATA (UQCRC2)
ENST00000563898.5:c.966+1895_966+1896insATA (UQCRC2)	ENSP00000456738.1:n.966+1895_966+1896insATA
NM_003366.2:c.1047+41_1047+42insATA (UQCRC2)	NP_003357.2:n.1047+41_1047+42insATA
NM_003366.3:c.1047+41_1047+42insATA (UQCRC2)	NP_003357.2:n.1047+41_1047+42insATA
XM_011545785.1:c.786+10260_786+10261insTTA (PDZD9)	XP_011544087.1:n.786+10260_786+10261insTTA
XM_011545785.3:c.786+10260_786+10261insTTA (PDZD9)	XP_011544087.1:n.786+10260_786+10261insTTA
XM_017023109.1:c.606+10260_606+10261insTTA (PDZD9)	XP_016878598.1:n.606+10260_606+10261insTTA
XM_017023110.1:c.600+10260_600+10261insTTA (PDZD9)	XP_016878599.1:n.600+10260_600+10261insTTA
NM_003366.4:c.1047+41_1047+42insATA (UQCRC2) MANE Select	NP_003357.2:n.1047+41_1047+42insATA