Canonical Allele Identifier: CA2506685921

Gene: MMADHC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569699_149569700insTTTCTTTTATCTTTATTGT , CM000664.2:g.149569699_149569700insTTTCTTTTATCTTTATTGT	GRCh38
NC_000002.11:g.150426213_150426214insTTTCTTTTATCTTTATTGT , CM000664.1:g.150426213_150426214insTTTCTTTTATCTTTATTGT	GRCh37
NC_000002.10:g.150134459_150134460insTTTCTTTTATCTTTATTGT	NCBI36
NG_009189.1:g.23118_23119insCAATAAAGATAAAAGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.*275_*276insCAATAAAGATAAAAGAAAA MANE Select	ENSP00000301920.5:n.*275_*276insCAATAAAGATAAAAGAAAA
ENST00000303319.9:c.*275_*276insCAATAAAGATAAAAGAAAA	ENSP00000301920.5:n.*275_*276insCAATAAAGATAAAAGAAAA
ENST00000422782.2:c.*275_*276insCAATAAAGATAAAAGAAAA	ENSP00000408331.2:n.*275_*276insCAATAAAGATAAAAGAAAA
ENST00000428879.5:c.*275_*276insCAATAAAGATAAAAGAAAA	ENSP00000389060.1:n.*275_*276insCAATAAAGATAAAAGAAAA
NM_015702.2:c.*275_*276insCAATAAAGATAAAAGAAAA	NP_056517.1:n.*275_*276insCAATAAAGATAAAAGAAAA
NM_015702.3:c.*275_*276insCAATAAAGATAAAAGAAAA MANE Select	NP_056517.1:n.*275_*276insCAATAAAGATAAAAGAAAA