Canonical Allele Identifier: CA1933418579

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034389_104034391delinsCTT , CM000672.2:g.104034389_104034391delinsCTT	GRCh38
NC_000010.10:g.105794147_105794149delinsCTT , CM000672.1:g.105794147_105794149delinsCTT	GRCh37
NC_000010.9:g.105784137_105784139delinsCTT	NCBI36
NG_007069.1:g.56490_56492delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-57_3521-55delinsAAG	ENSP00000358748.3:n.3521-57_3521-55delinsAAG
ENST00000648076.2:c.3767-57_3767-55delinsAAG MANE Select	ENSP00000497653.1:n.3767-57_3767-55delinsAAG
ENST00000353479.9:c.3767-57_3767-55delinsAAG	ENSP00000340937.5:n.3767-57_3767-55delinsAAG
ENST00000369733.7:c.3521-57_3521-55delinsAAG	ENSP00000358748.3:n.3521-57_3521-55delinsAAG
NM_000494.3:c.3767-57_3767-55delinsAAG	NP_000485.3:n.3767-57_3767-55delinsAAG
NM_000494.4:c.3767-57_3767-55delinsAAG MANE Select	NP_000485.3:n.3767-57_3767-55delinsAAG