Canonical Allele Identifier: CA527273473

Gene: DNM3 PIGC

Linked Data

• dbSNP Id: rs1456500107
• gnomAD v2: 1-172346449-G-GCA
• gnomAD v3: 1-172377309-G-GCA
• gnomAD v4: 1-172377309-G-GCA
• MyVariant Identifiers: chr1:g.172346449_172346450insCA (hg19) ; chr1:g.172377309_172377310insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.172377312_172377313dup , CM000663.2:g.172377312_172377313dup	GRCh38
NC_000001.10:g.172346452_172346453dup , CM000663.1:g.172346452_172346453dup	GRCh37
NC_000001.9:g.170613075_170613076dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000485254.3:c.1912-1706_1912-1705dup (DNM3)	ENSP00000429165.2:n.1912-1706_1912-1705du...
ENST00000627582.3:c.1894-1706_1894-1705dup (DNM3) MANE Select	ENSP00000486701.1:n.1894-1706_1894-1705du...
ENST00000355305.9:c.1912-1706_1912-1705dup (DNM3)	ENSP00000347457.5:n.1912-1706_1912-1705du...
ENST00000367731.5:c.1882-1706_1882-1705dup (DNM3)	ENSP00000356705.1:n.1882-1706_1882-1705du...
ENST00000465374.1:n.165-675_165-674dup (PIGC)
ENST00000489002.5:n.260-675_260-674dup (PIGC)
ENST00000627582.2:c.1894-1706_1894-1705dup (DNM3)	ENSP00000486701.1:n.1894-1706_1894-1705du...
NM_001136127.2:c.1882-1706_1882-1705dup (DNM3)	NP_001129599.1:n.1882-1706_1882-1705dup
NM_015569.4:c.1894-1706_1894-1705dup (DNM3)	NP_056384.2:n.1894-1706_1894-1705dup
XM_005245079.1:c.1924-1706_1924-1705dup (DNM3)	XP_005245136.1:n.1924-1706_1924-1705dup
XM_005245080.1:c.1912-1706_1912-1705dup (DNM3)	XP_005245137.1:n.1912-1706_1912-1705dup
XM_005245081.1:c.1924-1706_1924-1705dup (DNM3)	XP_005245138.1:n.1924-1706_1924-1705dup
XM_005245082.3:c.1594-1706_1594-1705dup (DNM3)	XP_005245139.1:n.1594-1706_1594-1705dup
XM_011509400.1:c.1924-1706_1924-1705dup (DNM3)	XP_011507702.1:n.1924-1706_1924-1705dup
XM_011509401.1:c.1924-1706_1924-1705dup (DNM3)	XP_011507703.1:n.1924-1706_1924-1705dup
XR_426865.1:n.32-675_32-674dup
NM_001350204.1:c.1912-1706_1912-1705dup (DNM3)	NP_001337133.1:n.1912-1706_1912-1705dup
NM_001350206.1:c.1912-1706_1912-1705dup (DNM3)	NP_001337135.1:n.1912-1706_1912-1705dup
NR_146559.1:n.2107-1706_2107-1705dup (DNM3)
XM_017000976.1:c.2068-1706_2068-1705dup (DNM3)	XP_016856465.1:n.2068-1706_2068-1705dup
XM_017000977.1:c.2056-1706_2056-1705dup (DNM3)	XP_016856466.1:n.2056-1706_2056-1705dup
XM_017000978.1:c.2038-1706_2038-1705dup (DNM3)	XP_016856467.1:n.2038-1706_2038-1705dup
XM_017000979.1:c.2068-1706_2068-1705dup (DNM3)	XP_016856468.1:n.2068-1706_2068-1705dup
XM_017000980.1:c.1939-1706_1939-1705dup (DNM3)	XP_016856469.1:n.1939-1706_1939-1705dup
XM_017000982.2:c.1912-1706_1912-1705dup (DNM3)	XP_016856471.1:n.1912-1706_1912-1705dup
XM_017000983.1:c.1894-1706_1894-1705dup (DNM3)	XP_016856472.1:n.1894-1706_1894-1705dup
XM_017000984.1:c.1882-1706_1882-1705dup (DNM3)	XP_016856473.1:n.1882-1706_1882-1705dup
XM_017000985.1:c.1882-1706_1882-1705dup (DNM3)	XP_016856474.1:n.1882-1706_1882-1705dup
XM_017000986.1:c.1783-1706_1783-1705dup (DNM3)	XP_016856475.1:n.1783-1706_1783-1705dup
XM_017000987.1:c.1594-1706_1594-1705dup (DNM3)	XP_016856476.1:n.1594-1706_1594-1705dup
XR_001737107.1:n.1964-1706_1964-1705dup (DNM3)
XR_001737108.1:n.2102-1706_2102-1705dup (DNM3)
XR_001737110.1:n.1946-1706_1946-1705dup (DNM3)
XR_001737111.1:n.1814-1706_1814-1705dup (DNM3)
NM_015569.5:c.1894-1706_1894-1705dup (DNM3) MANE Select	NP_056384.2:n.1894-1706_1894-1705dup
NM_001136127.3:c.1882-1706_1882-1705dup (DNM3)	NP_001129599.1:n.1882-1706_1882-1705dup
NM_001350204.2:c.1912-1706_1912-1705dup (DNM3)	NP_001337133.1:n.1912-1706_1912-1705dup
NM_001350206.2:c.1912-1706_1912-1705dup (DNM3)	NP_001337135.1:n.1912-1706_1912-1705dup
NR_146559.2:n.2087-1706_2087-1705dup (DNM3)