Canonical Allele Identifier: CA235538

Gene: FABP7

Linked Data

• ClinVar Variation Id: 97086
• ClinVar RCV Id: RCV000162281
• dbSNP Id: rs431905492
• MyVariant Identifiers: chr6:g.123101601del (hg19) ; chr6:g.122780456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.122780456del , CM000668.2:g.122780456del	GRCh38
NC_000006.11:g.123101601del , CM000668.1:g.123101601del	GRCh37
NC_000006.10:g.123143300del	NCBI36
NG_050619.1:g.36256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368444.8:c.239del MANE Select	ENSP00000357429.3:p.Asn80ThrfsTer27
ENST00000356535.4:c.239del	ENSP00000348931.4:p.Asn80ThrfsTer27
ENST00000368444.7:c.239del	ENSP00000357429.3:p.Asn80ThrfsTer27
NM_001446.3:c.239del	NP_001437.1:p.Asn80ThrfsTer27
XM_005266858.2:c.239del	XP_005266915.1:p.Asn80ThrfsTer27
NM_001319039.1:c.239del	NP_001305968.1:p.Asn80ThrfsTer27
NM_001319041.1:c.239del	NP_001305970.1:p.Asn80ThrfsTer4
NM_001319042.1:c.227del	NP_001305971.1:p.Asn76ThrfsTer27
NM_001446.4:c.239del	NP_001437.1:p.Asn80ThrfsTer27
NM_001446.5:c.239del MANE Select	NP_001437.1:p.Asn80ThrfsTer27
NM_001319041.2:c.239del	NP_001305970.1:p.Asn80ThrfsTer4
NM_001319039.2:c.239del	NP_001305968.1:p.Asn80ThrfsTer27
NM_001319042.2:c.227del	NP_001305971.1:p.Asn76ThrfsTer27